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News Corner

Making the right connections since 1988

Welcome to the Genetics Alliance Australia News Corner, which we keep regularly updated with new and further developments in the Genetics arena, and what's coming up.

24th Genetic Disorders Awareness Week    |      Tuesday 19th September 2017

Genetic Alliance Australia's Genetic Awareness Week seeks to educate the public about the impact of genetic conditions on individuals and families.

Tuesday 19th September 2017, 5.45pm – 8.00pm

Venue: Strangers' Dining Room, Parliament of NSW, 6 Macquarie Street, Sydney 2000




The Inaugural Australian Neurofibromatosis Clinical Symposium 2017    |      20th October 2017

The Children's Tumour Foundation of Australia warmly invites you to

The Inaugural Australian Neurofibromatosis Clinical Symposium 2017

Date: Friday 20 October 2017

Sydney | Royal Australasian College of Physicians

Cost: $50. Trainees - Free.

We are proud to announce the Inaugural Australian Neurofibromatosis Clinical Symposium 2017 to be held in Sydney. The symposium will feature a keynote address from Professor Rosalie Ferner, Professor of Neurology at Guy's and St Thomas' Hospital in London. The address will be followed by presentations outlining the latest clinical thinking on research findings and treatment approaches for patients diagnosed with Neurofibromatosis (NF). Our aim is to bring together clinicians and researchers to improve collaboration in this diverse clinical community.

This event is aimed at Doctors (consultants and trainees), Clinical Specialists and Scientists in the field of NF1, NF2, and Schwannomatosis.

Register Here




National Fabry Patient Meeting    |      Saturday 9th September

Fabry Australia
National Fabry Patient Meeting

Title: 'Exploring the Fabry Future'

Date: Saturday 9th September 2017

Venue: Novotel Melbourne, St Kilda

This year's conference shaping up to be a fabulous program. We are fortunate to have excellent speakers presenting on a range of topics including; the latest clinical Fabry Disease research, findings from the Australian Experience of living with Fabry Disease, Management of Fabry Disease in the clinical setting, Fabry Disease and Genetics / inheritance, Fabry patient support programs, Carers Support Programs / NDIS, Fabry Disease Testing Programs, the isolation of living with Fabry Disease in New Zealand and some Fabry Disease patient testimonies. Fabry Australia has invited a facilitator to help with a workshop on Fundraising – putting the 'Fun' back into fundraising.

To view the conference program PRESS HERE


To register (before 18th August) Press Here




Filling the Void Seminar - Albury    |      22nd July 2017

GENETIC ALLIANCE AUSTRALIA
Invites you to an
Information session on genetics and support services

ALBURY Sat. 22nd & Sun. 23rd July 2017

Guest speakers will discuss:

Genetics; Siblings Workshop; accessing
supports in the Albury/Wodonga area - and more!

Featuring a Saturday evening dinner for parents. A rare chance to spend
relaxing time getting to know others in similar circumstances!
This meeting will focus on rare genetic conditions, family support and accessing
local services.

The forum is for families and providers of disability services
in the Albury/Wodonga area

Lunch will be provided on Saturday.

About Genetic Alliance Australia:
Genetic Alliance (GA) is a peak umbrella group for rare genetic conditions established in
1988. The diagnosis of a genetic condition in a family member, especially a child, places
enormous stress on the family and GA provides the peer support and information they need
both in the immediate short term and in the on-going years of care.

To attend this event, please register by contacting
Jenny Rollo OAM, Projects Manager
Email: projects@geneticalliance.org.au
P: (02) 9295 8314 or (02) 9295 8359

In your response please indicate your interest in a workshop for siblings (incl their ages), and
a dinner for parents on Saturday evening. This will be a rare chance to relax and network
with others in the same boat. Notice of dietary restrictions is appreciated.




NEWS | Australian-first whole genome sequencing and health testing open to public    |      20th June 2017

By Kate Aubusson, Sydney Morning Herald - http://www.smh.com.au/national/health/australianfirst-whole-genome-sequencing-and-health-testing-open-to-public-20170619-gwtsgm.html

People with a niggling curiosity and $6400 can now find out if their genetics and lifestyle has left them prone to developing a suite of life-threatening conditions including 31 types of cancer and 13 heart conditions across 230 genes.

Launched on Tuesday by Sydney's Garvan Institute's Genome.One lab and corporate clinic Life First, the service also offers individuals the ability to predict how they would likely react to more than 220 medications, allowing clinicians to better tailor treatment to their patients.

CEO of Genome.One Dr Marcel Dinger said the service marked the start of a new era in precision medicine that balanced an individual's genetic predisposition to disease with lifestyle factors.

"Today's launch is a major milestone towards transforming our health system into one based on truly individualised information ... and one that focuses on prevention rather than treating disease," Dr Dinger said.

"Genetic information provides an entirely new dimension to understand your health, but its value is best realised in the context of other health data.

"Personal and family medical history and lifestyle are key components for consideration in this service," he said.

With its hefty price tag and government subsidies, the service is geared towards those who can afford to pay for it and took a highly proactive approach to their health.

"Others are simply curious about what their genome holds, and if they have any predispositions they want to know about them," Dr Dinger said.

Blood samples provide the raw material needed to sequence a patient's genome. Individuals also undergo a physical examination as well as pathology testing and a review of lifestyle risks like smoking, diet and alcohol intake.

Genetic counsellors guide patients through the process, explaining how the testing works, managing expectations and interpreting the results.

Roughly 5 per cent to 10 per cent of people would discover they carried a genetic variation in their genes that put them at increased risk of one of the conditions the service tests for, Genone.One genetic counsellor Mary-Anne Young said.

"It's not about giving people good news or bad news. It's about explaining 'you have a variation in your genes that causes an increased risk or say, heart disease or cancer or another treatable condition'," Ms Young said.

"Some people are taken aback at first. But the counterbalance is that it doesn't necessarily mean they are going to develop the condition.

"It means they have a higher risk than the average person and they can take steps to reducing their risk," she said.

The service can refer patients for further testing, treatment and prevention programs via First Life programs attached to St Vincent's outpatient clinics in Sydney and Melbourne.

The service only offers testing for conditions with known treatments and effective evidence-based prevention strategies.

Medical ethicists have previously raised concerned about the potential of genetic testing for predispositions leading to over-testing and inappropriate treatment, and creating a cohort of "worried well".

"If people have those concerns we should be addressing them," Ms Young said.

"But I think this is less likely creating a society of worried well and more likely creating a preventative, personalised health system instead of waiting for people to develop the condition then doing something about it."

A total of 47,753 Australians will die of cancer, and 134,174 new cancers will be diagnosed in 2017, government estimates predict

In 2015, heart disease was responsible for 45,392 deaths and 480,392 largely preventable hospitalisations, according to the Heart Foundation.




NEWS | Free genetic sequencing funded to diagnose Victorian patients with mystery illnesses    |      28th April 2017

By Grant McArthur, Health editor, Herald Sun - http://www.heraldsun.com.au/news/victoria/free-genetic-sequencing-funded-to-diagnose-victorian-patients-with-mystery-illnesses/news-story/e55899cb9fe6cd416e13df33834c00ee

While cutting-edge genetic sequencing is not yet available on Medicare, the Victorian government will pour $8.3 million into its own program in next week's Budget to arm doctors with the latest advances hoped to diagnose desperate children and adults.

The four-year funding is expected to provide full genetic sequencing for about 80 patients a year who have conditions so rare they cannot be diagnosed through previous methods.

While the Andrews government has previously provided $25 million for an Australian-first research-based genomic sequencing project, the new funding is targeted to public patients who are not eligible for research trials or specialist programs.

Opening up the groundbreaking technology to public patients would save them years of uncertainty and the thousands of dollars now needed for overseas tests, Heath Minister Jill Hennessy said.

"Kids with rare genetic conditions can suffer years of painful tests and procedures, without ever learning what's making them ill — we're changing that by funding public access to this incredible technology," she said.

"The evidence is clear. ­Genomic sequencing is helping more patients receive a diagnosis faster, and get the care and treatment they need, sooner."

Genomic sequencing can examine the DNA in all 20,000 genes from an individual, searching for faults or discrepancies and speeding up the diagnosis of rare and complex genetic conditions. Victoria will become the first state offering free genome sequencing to adults and children as part of routine clinical practice.

In NSW's undiagnosed disease program, users must pay between $5000-$10,000 for the testing. Western Australia also offers limited genome sequencing.

As well as full genetic sequencing, the publicly funded Victorian program will include counselling, and clinical primarily be provided by specialists at the Royal Children's and Monash Children's hospitals.

After eight years of all types of testing, Melissa Peterson still has no idea why her son Rhys is wheelchair-bound, unable to sit straight or talk, or what his future holds.

Ms Peterson said being able to gain a diagnosis through routine tests in Australia would be priceless.

"Rhys has had a very tough life," she said.

"This could potentially change the way he is treated when we present to hospital because we would know what we are dealing with."

Following a push by the Herald Sun, the Andrews Government committed $25 million in 2014 for a research-based screening program allowing about 2000 children to undergo genetic screening for specific conditions.

More than 100 children who could not otherwise have been diagnosed have now had their conditions identified through the program.




NEWS | Cystic fibrosis 'miracle' drug among Turnbull government's $310m PBS listing    |      1st May 2017

By Adam Gartrell, Sydney Morning Herald - http://www.smh.com.au/federal-politics/political-news/cystic-fibrosis-miracle-drug-among-turnbull-governments-310m-pbs-listing-20170430-gvvl0l.html

Health Minister Greg Hunt says the medicines - among $310 million worth of drugs to be added to the Pharmaceutical Benefits Scheme on Monday - will change and save lives.

Kalydeco will for the first time become available to children with cystic fibrosis aged two to five. Children born in Australia with CF today have a life expectancy of just 37 years but the new wonder drug could extend that by as much as two decades.

It has been listed on the PBS since December 2014 but until now has been restricted to patients aged six or over.

For Samantha Fox, whose three-year-old daughter Scarlett suffers from the debilitating genetic lung disease, the listing is "monumental".

"We're ecstatic," said Ms Fox, who lives in Hobart.

"It has given us a new sense of hope about what the future holds for her. She's a very charismatic and intelligent little girl and she's now on a drug that's as close to a cure as we have."

The drug company recently gave Scarlett early access to the drug and already she has more energy. She's eating more, putting on weight and her ever-present cough has begun to subside.

Without the subsidy the treatment would be completely out of the Fox family's reach at $300,000 a year. With the subsidy it will now cost $38.80, or $6.30 for concession card holders.

Mr Hunt has also announced the government will list Blincyto, a treatment for a rare form of acute lymphocytic leukaemia. It will save patients $127,700 per course.

It helps induce and maintain cancer remission to allow stem cell transplant. It works by targeting and encouraging the destruction of lymphoma cells.

The government is also listing a treatment for idiopathic pulmonary fibrosis, another deteriorative lung disease, which normally costs $39,700 per treatment and will benefit 1470 patients.

It will also subsidise Zinbryta for sufferers of multiple sclerosis.

Nettie Burke from Cystic Fibrosis Australia said Kalydeco will transform the lives of at least 30 Australian families, delaying lung damage to help their children live longer.

"To have a child who's well, who is out of hospital and not in agony - it's a life-changer. It will also have a huge impact on parents looking after these kids by reducing the burden of the disease."

Ms Burke is now fighting for another drug - Orkambi - to be added to the PBS, estimating it could help a further 1000 families. The government says it is making progress on that drug.

Mr Hunt said the Coalition had added about $6 billion of news drugs to the PBS since coming to power in 2013.

"Australia's PBS is one of the foundations of our universal health care system and is the envy of many countries," Mr Hunt said. "The Turnbull government has a rock-solid commitment to Medicare and part of this commitment is ensuring people have access to medicine when they need it. We are delivering on this commitment."




EVENT | TRIPLE X SEMINAR    |      28th April 2017

Conference times

Conference sign on: 9.30am

Conference start time: 10.00am

Conference conclusion: 3.45pm approximately

Conference location

Genetic Alliance Australia

C/- Garvin Institute of Medical Research

Level 6, 384 Victoria Street

Darlinghurst NSW 2010

Contact

Mrs Jenny Rollo

Projects Manager

Genetic Alliance Australia

Ph: (02) 9295 8359




RESEARCH | Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays    |      11th April 2017

By James Radke, Rare Disease Report

A study published in Orphanet Journal of Rare Disorders shows that many parents are not content with the support they receive following a rare disease diagnosis of their children. Furthermore, delayed diagnoses are a common and major stressor for these families.

The study asked families of 492 children with rare diseases about their experience in the health care system in Australia and the results were quite surprising. Even with children, often thought to be easy to diagnose, delays in diagnosis were common. In children aged 0-4 (n=126), perceived delays in diagnosis were reported by 58.7% of parents. Similar percentages were seen with children 5-12 years of age (n=135; 55.5% perceived delayed diagnosis) and 13-18 years of age (n=98; 54.1% perceived delayed diagnosis).

And those delays involved a lot of doctor appointments. Before receiving the correct diagnosis, 38% of the families consulted 6 or more different doctors.

The delays also created a lot of frustration and stress. Of the 157 respondents who believed that the diagnosis was delayed, 64 provided comments about the consequences for their families. Anxiety, frustration and stress were the most common consequences (54.7%) of a delayed diagnosis. This was followed by worsening of symptoms and disease progression (37.5%), delays in treatment or early intervention (25.0%), use of inappropriate treatments (10.9%), additional medical costs (9.4%) and other consequences including impacts on family relationships and siblings (18.8%).

On the plus side, psychological support was offered to 47.5% of families around the time of diagnosis, either by a social worker (46.8%), a genetic counsellor (45.3%), and/or a specialist (27.9%). Most respondents (86.2%) believed psychological support should always be offered to families at the time of diagnosis.

The most common rare disease type was inborn errors of metabolism. Among that group, 30% (46 / 152) believed their diagnosis was delayed. Surprisingly, families with a rare neurological disorder had the highest percentage of perceived diagnostic delays with 70.6% (12 / 17). As for the 29 children without a diagnosis, at the time of completing the survey, these children had already waited a median of 6.4 years for a diagnosis with 41.4% of these families seeing 3 - 5 different doctors, 24.1% seeing 6 - 10 different doctors and 11.1% seeing more than 10 doctors.

In agreement with previous studies, parents reported that delayed diagnosis had significant impacts on themselves and their family, including:
anxiety, frustration and stress
worsening symptoms or disease progression
delays in treatment or early intervention
use of inappropriate treatments.

The authors noted that the most common perceived reasons for delayed diagnosis reported by parents was the lack of knowledge among health professionals.

VIEW THE RESEARCH PAPER HERE




MEDIA RELEASE | Faster Diagnosis For Rare Diseases And Cancers    |      20 March 2016

From http://www.premier.vic.gov.au/faster-diagnosis-for-rare-diseases-and-cancers/

Minister for Health, Jill Hennessy, today announced the next five disease areas to be evaluated by the Melbourne Genomics Health Alliance, which will see 800 Victorians access genetic sequencing over the next two years.

The disease areas selected by the Alliance for the project's second phase are:

Immune disorders where the immune system does not function normally
Dilated cardiomyopathy where the heart's pumping function is reduced
Congenital deafness where hearing loss is present at birth
Infants and children with complex medical issues (some of whom are acutely unwell) where genomic sequencing will be offered as a first diagnostic test rather than after other testing options have been exhausted
Cancers of the lymphatic system and solid tumours to better target treatment for individual patients with advanced cancer
Patients with defects in their immune system are among the first to benefit from access to genomic sequencing within the Victorian health system as a result.

Many patients with rare immunology disorders undergo invasive and expensive clinical tests and treatments over long periods of time – in some cases up to 15 or more years – to determine the cause of their illness without receiving a diagnosis.

Genomic sequencing can speed up the diagnosis of rare conditions and inherited diseases, meaning patients can receive better care and potentially improved health outcomes.

Genetic testing is vital for prevention, diagnosis and management of genetic disorders, as people with specific genetic mutations can be more at risk of disease than the general population. It also means Victorians with heredity diseases will have a greater understanding about how their genetic condition might impact them and their family.

Today's announcement builds on Melbourne Genomics' work to evaluate genomic sequencing on patients with acute myeloid leukaemia, inherited neuropathy, colorectal cancer, focal epilepsy and childhood syndromes.

Additional disease areas will be announced in 2017.

Quotes attributable to Minister for Health Jill Hennessy

"Many patients with these rare conditions experience years of suffering and invasive testing – we're investing in the genomic medicine revolution so more patients receive the diagnosis and care they need sooner."

"Genomic sequencing not only brings the potential for faster and more accurate diagnosis, it gives patients and their families more certainty about how a genetic condition might impact them in the future."

"Delivering this election commitment puts Victoria at the forefront of genomic sequencing not only in Australia, but on the world stage."




MEDIA RELEASE | Australia’s untold health story: Lynch syndrome    |      20th March 2017

Lynch Syndrome Australia Founding Director, Ms Beth Fairbank said only 5% of Australians with Lynch syndrome have been diagnosed.

"It's imperative that people with the gene are diagnosed early in order to increase cancer prevention and early detection. For a person with the gene, they have a 70% chance of developing a Lynch syndrome-related cancer (including bowel, endometrium, pancreas, stomach, breast, prostate, kidney and skin cancer)," said Ms Beth Fairbank, Lynch Syndrome Australia Founding Director.

Lynch syndrome is a mistake (mutation) in a gene that should be repairing cells and affects whole families across generations. When people with Lynch syndrome develop cancer, they often have more than one cancer and their cancer develops far more quickly.

Lynch Syndrome Australia has released Lynch syndrome: Australia's untold health story, a report that calls for a number of important recommendations to improve diagnosis, risk management and support. It draws on the findings of a world-first study of the lived experience of people with Lynch syndrome and outlines responses from the 251 Australian participants. The findings reveal many Australians with this condition are misdiagnosed, misunderstood and are missing out on essential and appropriate care and support," said Ms Fairbank. "Things must change."

"First and foremost, we are calling for all bowel and endometrial tumours to be tested when cancer is first diagnosed. This is our best chance of identifying families who may be at risk." said Ms Fairbank.

GPs and other health professionals must play a greater role in identifying people who have this inherited risk and should be encouraged to take a comprehensive family cancer history. Other recommendations involve establishing a national register to help individuals and to aid research; setting up centres of excellences and providing risk management and psycho-social care, especially designed for the unique needs of the 1 in 280 Australians who carry this mutation.

"Lynch Syndrome Australia is building working relationships with peak bodies, policy-makers and cancer organisations to make sure that tens of thousands of Australians are no longer misdiagnosed and misunderstood." said Ms Fairbank.

READ THE FULL REPORT HERE 




NEWS | Teenager's sickle cell reversed with world-first therapy    |      2nd March 2017

By James Gallagher, Health and science reporter, BBC News website

The world-first procedure at Necker Children's Hospital in Paris offers hope to millions of people with the blood disorder. Scientists altered the genetic instructions in his bone marrow so it made healthy red blood cells. So far, the therapy has worked for 15 months and the child is no longer on any medication.

Sickle cell disease causes normally round red blood cells, which carry oxygen around the body, to become shaped like a sickle. These deformed cells can lock together to block the flow of blood around the body. This can cause intense pain, organ damage and can be fatal. The teenager who received the treatment had so much internal damage he needed to have his spleen removed and his hips replaced. Every month he had to go into hospital to have a blood transfusion to dilute his defective blood. But when he was 13, doctors at the Necker Children's Hospital in Paris did something unique.

Doctors removed his bone marrow - the part of the body that makes blood. They then genetically altered it in a lab to compensate for the defect in his DNA that caused the disease. Sickle cell is caused by a typo in the instructions for making the protein haemoglobin, which is densely packed into red blood cells. A virus was used to infect the bone marrow with new, correct instructions. The corrected bone marrow was then put back into the patient.

The results in the New England Journal of Medicine showed the teenager has been making normal blood since the procedure 15 months ago. Philippe Leboulch, a professor of medicine at the University of Paris, told the BBC News website: "So far the patient has no sign of the disease, no pain, no hospitalisation. He no longer requires a transfusion so we are quite pleased with that. "But of course we need to perform the same therapy in many patients to feel confident that it is robust enough to propose it as a mainstream therapy."

Prof Leboulch is nervous about using the word "cure" as this is just the first patient to come through clinical trials. But the study does show the potential power of gene therapy to transform the lives of people with sickle cell. "I think it's very significant, essential they've given him his life back," said Dr Deborah Gill from the gene medicine research group at the University of Oxford. She told the BBC: "I've worked in gene therapy for a long time and we make small steps and know there's years more work. "But here you have someone who has received gene therapy and has complete clinical remission - that's a huge step forward." However, the expensive procedure can only be carried out in cutting-edge hospitals and laboratories, while most sickle cell patients are in Africa. The next big challenge will be to transform this pioneering science into something that really can help millions of people.




NEWS | Family of young cowboy with rare condition call for funding of lifesaving treatment    |      3rd February 2017

From Sydney Morning Herald, By Claire Sibthorpe

Beau used to spend every day in such pain he could not walk up stairs or play for more than 15 minutes. People with his rare condition, Morquio A, live an average of 25 years.

Beau's family is one several calling for the only available treatment for Morquio A, Vimizim, to be funded via the government scheme Life Saving Drugs Program.

It is the second attempt for the treatment to be subsidised, after an application for it to be placed on the Pharmaceutical Benefits Scheme was rejected last year.

Beau is currently on a trial for Vimizim through a pharmaceutical company. The funding for the therapy was discussed in federal parliament this week.

Beau's mother, Samantha, says that since being placed on the trial, Beau can run, attend school with his brothers and "be a normal kid".

"His life was pretty much gone when he was diagnosed at one year old," Ms Cosgrove said.

"When we got the phone call two years later to say he was on the trial, I was on the way to the beach and I cried for two days. We finally thought he could have a future."

Morquio A affects just 21 Australians, impacting the development of their bones, respiratory system, eyesight, hearing, teeth, liver and other body parts. People with the disease are missing - or don't make enough of - an enzyme that allows their body to break down certain materials.

Even for those currently receiving treatment, via the manufacturer, until Vimizim is funded by the federal government, there can be no guarantees of continued access.

Every week Beau travels to Canberra from Taralga, north of Goulburn, for treatment. But he could be cut off from the lifeline if the federal government again refuses to fund it.

"I'm afraid that the drug company may have had enough of waiting on the government and pull the drug," Ms Cosgrove said. "That terrifies me."

Despite Beau's battle with uncertainty, Ms Cosgrove said he is one of the lucky ones with Morquio A. As he was diagnosed before the drug became available in Australia, he was eligible for the trial. But he has a friend with the same condition who is "living a completely different life" because he can't access the expensive drug.

The Pharmaceutical Benefits Advisory Committee considered a submission to fund Vimizim in 2016. But the committee did not find it cost effective enough for the Pharmaceutical Benefits Scheme.

Executive Officer of Rare Voices Australia, Nicole Millis, said the decision was devastating for families and unfair given it was found to be clinically effective.

"At the moment these patients are receiving treatment via compassionate funding, but without government funding there is no certainty that the compassionate funding will continue," Ms Millis said.

"It is a small patient group but they are brave fighters, they've done everything right in this process and the system has just let them down. There is a way for it to be treated and yet they are left having to fight for that right."

During senate estimates in parliament this week, the federal health department said it was considering the reimbursement of Vimizim on the Life Saving Drugs Program.

The questioning came in the wake of new research published in the Australian Health Review journal, which urged the federal government to urgently reassess how it funds treatments for ultra-rare diseases.




PRESS RELEASE | Landmark study shows deadly cost of disability discrimination    |      9th February 2016

"This study is stark evidence that people with intellectual disability are very poorly serviced by the health system. Time and again, people with intellectual disability and their families report to us that health professionals do not understand their needs and, in some cases, are flagrantly discriminatory", says Jim Simpson, NSW CID Senior Advocate.
NSW CID Board Member Judy Harper is the legal guardian of a 41 year old woman, Chris, with Down Syndrome and recounts an upsetting experience.

"Chris was admitted to intensive care in a major hospital where she was put on a ventilator to assist her breathing. The physician insisted that I agree for Chris not to be resuscitated if they took her off the ventilator. I refused. He kept saying I needed to think of Chris' quality of life. I was furious, they knew nothing about Chris' life and I knew that if she pulled through she would continue to have a good life. I stuck to my guns and she pulled through but it was extremely stressful", says Judy Harper.

Maureen McIlquham lost her daughter, Michelle, who also had Down Syndrome, to a disastrous misdiagnosis of meningitis. The doctors misinterpreted Michelle's responses, assuming her reactions were due to her disability instead of the intense pain she was experiencing.

"Change needs to happen to ensure doctors provide proper treatment to all patients and no more patients die. Discrimination against patients with intellectual disability has to stop", says Maureen McIIquham.

"The fact of the matter is that for a relatively modest investment the State Government could undertake the changes needed to end preventable deaths for people with intellectual disability", says Jim Simpson.

"We are looking at approximately $50 million per year over 10 years to enable the implementation of the study's recommendations in accordance with NSW Health's own Framework to Improve the Health Care of People with Intellectual Disability. These include training for doctors and nurses, regular reporting of deaths with a strategy to address the shortfalls in services and access, KPI's for Local Health Districts and funding of specialised intellectual disability health services to back up the mainstream", says Jim Simpson.

"This is a human rights issue and it is not being adequately addressed by Government. It is time a proper investment was made in the health of people with intellectual disability so that we can end the terrible number of Australians with intellectual disability dying from preventable illness."

Images available upon request. For further comments or an interview, please contact: Aine Healy: 0418 450 717 Jim Simpson: 0418 635 630




EVENT | Rare Disease Day 2017    |      2nd March 2017

Date: Thursday, 2 March, 2017
Time: 5:00pm – 7:00pm
Location: Sanofi Australia, Building D, 1224 Talavera Road, Macquarie Park

Now in its 10th year, this travelling exhibition features works of art by the Lysosomal Storage Disease Community from across the globe.

Honouring the 2017 Rare Disease Day slogan, 'with research, possibilities are limitless', the evening will include an interactive panel discussion, with guests speakers from government, research, industry, patient associations and support services together with a patient and carer perspective.

Moderated by Nicole Mills, Executive Officer, Rare Voices Australia, the panel will provide perspectives on: "The critical role of collaboration to accelerate progress in Rare Disease Research and Innovation"

Canapés and refreshments will be served
RSVP by Friday 27 February at www.sanofievents.
com.au/228211




NEWS | Murdoch Childrens Research Institute diagnose 100 kids’ mystery illnesses    |      18th February 2016

Lucie van den Berg, Medical reporter, Herald Sun

Using genomic sequencing, Murdoch Childrens Research Institute and Melbourne Genomics Health Alliance have transformed the lives of families facing an agonising search for answers.

MCRI chair of genomic medicine Professor John Christodoulou said it was a "once-in-a-generation disruptive technology" that will transform the way medicine is practised.

For families, a diagnosis can also deliver a confronting prognosis, but for most there is comfort in getting off the "diagnosis treadmill".

It may mean that their child can stop having invasive tests or start surveillance for health ailments associated with their disorder.

"Occasionally we find because we now know the gene involved, we can actually target a therapy based on our understanding of the gene that can potentially have direct benefit to the child in terms of stabilising the disorder or even improving it," Prof Christodoulou said.

Some families have found out that other siblings are also affected but, for others, knowing the condition was a genetic fluke gives them confidence to have another child.

Nelle Hookins is one of the 100 children given a diagnosis after repeated hospital admissions for respiratory problems and exhibiting low muscle tone and a small head.

It took 11 hospital admissions, 15 specialist appointments, hundreds of hours of research and, finally, genomic testing before her parents knew what was wrong with their baby girl.

By having her genome sequenced, to detect tiny spelling mistakes in the genetic code, MCRI's Dr Zornitza Stark was able to inform the family that Nellie had a rare disorder.

Cohen syndrome results in developmental delay, low muscle tone and a small head. It affects her entire body — from her brain development, to the growth of her head to her blood system and eyesight.

"Without a diagnosis we would still be frantically searching the internet," mother Amanda said.

"The fear that gripped us has dissipated because I know why she is the way she is now.

"I know we couldn't have predicted it."




NEWS | Children with suspected disabilities enduring 12-month wait for diagnosis in parts of Sydney    |      5th February 2017

By Stephanie Dalzell

A diagnosis, typically made by a specialised team including a paediatrician, occupational therapist, speech pathologist and social worker, is required for a child with a disability to access funding.

However, figures obtained by the ABC show children in Campbelltown, in Sydney's south-west, were left to wait an average of 12 months before receiving an assessment and diagnosis last year.

The Nepean Blue Mountains Local Health District recorded the same waiting time, while in Fairfield, it was eight months.

It was a different story in the South Eastern Local Health District, which includes hospitals like Prince of Wales, where children waited just three to six months.

Campbelltown paediatrician and former Labor MP, Dr Andrew McDonald, said it was postcode discrimination.

"This means that your future depends on where you live, if you have a disability," he said.
"In autism, intervention below the age of five is crucial to the long-term outcome, but if you have to wait 12 months to get appropriate diagnosis and therapy, that is 12 months wasted — that will never be got back — and a young child will have a lifelong handicap from a lack of services that should be available to them."

Larraine Brown manages KU Starting Points Macarthur, a support service centre near Campbelltown for children with disabilities.

She said many parents were in a state of limbo.

"They don't know where to turn," she said.

"If a child ... is put on the waiting list at two, and they are not given a diagnosis until the age of three, we've missed a really crucial stage in their development."

Parents at 'breaking point'

Each week, the parents gather at the Macarthur centre to share their stories. They all read the same.

Krystal Schneider's daughter waited 13 months for an assessment.

"If you don't know what's wrong with them, what are you meant to do in the meantime?" she said.

"It's such a struggling period to go through, people are at breaking point," she said.

Rebecca Winters' eldest son Connor waited one and a half years.

Her youngest son started school while he was waiting for an assessment, and missed out on funding.

"He's now having some struggles at school and I believe it's because he didn't get the diagnosis early enough to get help."

Government 'needs a statewide plan'

President of the NSW Australian Medical Association (AMA) Brad Frankum said it was crucial the waiting lists were reduced.

"The first thing the Government needs to do is understand the problem," he said.

"I don't believe we've kept up very well with expanding paediatric services more generally across the state in recent years, and I'd call on the Government at this point to really look at having a statewide plan for paediatric services."
Health Minister Brad Hazzard said he would meet with the AMA to discuss the issue.

"While there is variation in how each local health district implements comprehensive diagnostic assessments, I am assured by the department that all urgent cases are prioritised on individual clinical need," he said in a statement.

"But if more needs to be done it will be done."




NEWS | Patient and family perspectives on genome sequencing revealed by Genetic Alliance Australia    |      30th November 2016

Sydney, NSW – Genetic Alliance Australia (GA) has released the results of a twelve month project looking into the perspectives and needs of Australian patients and families who are considering genome sequencing. This comprehensive report is the first of its kind in Australia and serves as a reference guideline with twenty-one recommendations over six identified themes for relevant stakeholders to consider when incorporating genomics and testing services into the healthcare system. The report also contains two Case Studies and a Patient Charter aimed at providing guidance to those considering having their genome sequenced.


The project commenced September 2015 out of an expressed need by GA members to clarify perceptions of genome sequencing and to better understand the impact on families affected by diagnosed and undiagnosed genetic conditions. Over 400 genetic and rare disease patients, carers and family members participated in the national online survey as part of the project. Concerns such as informed consent, financial cost, clinical benefit, incidental findings, privacy and other aspects were explored in the project. A focus group was held to further explore the prominent issues which arose. The project highlighted that patients and families have high expectations about what genome sequencing can offer them. The potential to find a diagnosis or to learn more about their condition and what lies in store for the future was a high priority. Heather Renton, Founder of Syndromes Without a Name (SWAN) Australia says "Having a diagnosis can relieve uncertainty, anxiety, isolation and frustration. It leads to better treatment plans and allows you to plan for the future". The project also emphasised the importance of health professionals being educated in genomics, risks and benefits, and how to communicate results appropriately to patients.


The report is timely as Australia progresses towards providing clinical genome sequencing to the public. In 2014 the NSW Government invested $24m over four years into the Sydney Genomics Collaborative Program. A private clinical genome sequencing company Genome.One was established in July this year at the Garvan Institute of Medical Research and St Vincent's Hospital in Darlinghurst recently opened a Clinical Genomics Unit providing genomic testing and genetic counselling to individuals with a wide variety of diseases.

All media enquiries and interview requests to Dianne Petrie OAM, Executive Director, Genetic Alliance Australia +61 2 9295 8359.

Link to Report: www.geneticalliance.org.au/genome.php?1




NEWS | Millions spent on unusual diseases    |      13th November 2016

A WA study has revealed the high cost of treating rare diseases such as cystic fibrosis and early Alzheimer's disease.

In one of the first studies of its kind in the world, researchers found 467 rare diseases cost the WA health system at least $400 million a year in 2010, more than 10 per cent of all hospital spending.

The results, published in a US medical journal, have implications worldwide for dealing with the increasing number of people being diagnosed with one of about 6000 rare diseases.

Rare diseases occur in fewer than one in 2000 people. Most are inherited genetically and are difficult to diagnose.

They include Parkinson's disease, motor neurone disease, haemophilia, Huntington's disease and muscular dystrophy.

The WA Health Department-led research shows that people with a rare disease are admitted to hospital twice as often as others.

Lead researcher Caroline Walker, from the Office of Population Health Genomics, said that although the study had drawn exclusively on WA data, the investigation would help health planners and policymakers around the world.

The study found that while the average hospital stay among the wider population was 2.9 days, for people with a rare disease it was 3.6 days and where the admission related to the person's rare disease it was 5.5 days.

People with rare cancers had the most hospital admissions. Dr Walker said the results, published in Genetics in Medicine, were likely to understate the costs.

"In reality, the numbers are likely to be much larger due to the amount of people who have rare diseases who have not yet been diagnosed," she said.

"This study will help us better understand the needs of people living with a rare disease and better plan services for the future."

Dr Walker said people with rare diseases tended to have multiple health problems and complex care needs requiring access to a wide range of services.




NEWS | International Joint Recommendations to Address Specific Needs of Undiagnosed Rare Disease Patients    |      11/11/16

EURORDIS-Rare Diseases Europe, together with SWAN UK (the support group run by Genetic Alliance UK), the Wilhelm Foundation, Rare Voices Australia (RVA), the Canadian Organization for Rare Disorders (CORD), the Advocacy Service for Rare and Intractable Diseases' stakeholders in Japan (ASrid) and the National Organization for Rare Disorders (NORD) jointly submit a list of recommendations to address the specific needs of patients without a diagnosis urging all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.

Undiagnosed rare disease patients require the availability of a complete health and social care pathway in advance of receiving a diagnosis. Such care should promote their chances of receiving an accurate diagnosis in as efficient and timely way as possible, while ensuring that, until a diagnosis is made, they nevertheless receive the best possible health and social care.

These recommendations also highlight the importance of promoting ethical and responsible international data sharing to help inform a clinical diagnosis, accelerate research into novel conditions and provide insights into disease mechanisms. Furthermore, knowledge and information sharing among all stakeholders should be optimally coordinated and fostered so that patients can access appropriate resources in a timely and efficient manner.

Read the report here - http://download.eurordis.org.s3.amazonaws.com/documents/pdf/Undiagnosed-International-Joint-Recommendations.pdf




EVENT | Genetic Alliance AGM    |      3/11/16

Venue: Garvan Institute of Medical Research, 384
Victoria St, Darlinghurst NSW 2010

When: 3rd November 2016, 6:00pm to 7:00pm

RSVP by 1st November 2016 for catering purpose.

Light refreshments will be served




NEWS | First 'three person baby' born using new method    |     

The world's first baby has been born using a new "three person" fertility technique, New Scientist reveals. The five-month-old boy has the usual DNA from his mum and dad, plus a tiny bit of genetic code from a donor. US doctors took the unprecedented step to ensure the baby boy would be free of a genetic condition that his Jordanian mother carries in her genes.

Experts say the move heralds a new era in medicine and could help other families with rare genetic conditions. But they warn that rigorous checks of this new and controversial technology, called mitochondrial donation, are needed. It's not the first time scientists have created babies that have DNA from three people - that breakthrough began in the late 1990s - but it is an entirely new and significant method. 

Three person babies
Mitochondria are tiny structures inside nearly every cell of the body that convert food into usable energy. Some women carry genetic defects in mitochondria and they can pass these on to their children. In the case of the Jordanian family, it was a disorder called Leigh Syndrome that would have proved fatal to any baby conceived. The family had already experienced the heartache of four miscarriages as well as the death of two children - one at eight months and the other at six years of age.

Leigh syndrome

  • A severe neurological disorder, affecting at least one in 40,000 new-born babies.
  • Usually becomes apparent during the first year of a child's life.
  • First signs include vomiting, diarrhoea and difficulty with swallowing.
  • Causes the progressive loss of movement, and deterioration of mental functions.
  • Symptoms are linked to the development of patches of damaged tissue which develop in the brain.
  • Children with the condition usually die within two to three years, usually because of respiratory failure.
  • Mutations in 75 different genes have been linked to the condition.
  • Most of those mutations occur in DNA from the nucleus, but in about one in five cases the culprit is found in mitochondrial DNA.

Scientists have devised a number of fertility methods to help such families. The US team, who travelled to Mexico to carry out the procedure because there are no laws there that prohibit it, used a method that takes all the vital DNA from the mother's egg plus healthy mitochondria from a donor egg to create a healthy new egg that can be fertilised with the father's sperm.

The result is a baby with 0.1% of their DNA from the donor (mitochondrial DNA) and all the genetic code for things like hair and eye colour from the mother and father. Dr John Zhang, medical director at the New Hope Fertility Centre in New York City, and his colleagues used the method to make five embryos - only one of them developed normally.



1) Eggs from a mother with damaged mitochondria and a donor with healthy mitochondria are collected

2) The majority of the genetic material is removed from both eggs

3) The mother's genetic material is inserted into the donor egg, which can be fertilised by sperm.


The UK has already passed laws to allow the creation of babies from three people. But the science does raise ethical questions, including how any child from the technique might feel about having DNA from three people. Fertility experts say it is important to push ahead, but cautiously. Some have questioned whether we are only now hearing the success story while failed attempts could have gone unreported.

Prof Alison Murdoch, part of the team at Newcastle University that has been at the forefront of three person IVF work in the UK, said: "The translation of mitochondrial donation to a clinical procedure is not a race but a goal to be achieved with caution to ensure both safety and reproducibility." 

Critics say the work is irresponsible. Dr David King from the pro-choice group Human Genetics Alert, said: "It is outrageous that they simply ignored the cautious approach of US regulators and went to Mexico, because they think they know better. Since when is a simplistic "to save lives is the ethical thing to do" a balanced medical ethics approach, especially when no lives were being saved?"

Dr Zhang and his team say they will answer these questions when they presents their findings at a meeting of the American Society for Reproductive Medicine in October. Prof Darren Griffin, an expert in Genetics at the University of Kent, said: "This study heralds a new era in preimplantation genetics and represents a novel means for the treatment of families at risk of transmitting genetic disease. "With radical new treatments like this there are always challenging ethical issues, however any concerns need to be balanced against the ramifications of not implementing such a technology when families are in need of it."

If you would like more information about Mitochondrial Donation, please contact the Australian Mitochondrial Disease Foundation (AMDF)
Ph:1300 977 180
Email: info@amdf.org.au




EVENT | BRCA1/2/unknown gene faults Information Day    |      9th October 2016

You are invited to attend Genetic Alliance Australia's

16th Annual Information Day
for those living with BRCA1/2/unknown
gene faults, their families and support people

Sunday 9th October 2016
9.30am - 3.00 pm
The Auditorium, L1,Garvan Institute
of Medical Research, 384 Victoria Street
Darlinghurst NSW 2010 (entry via Burton Street)

Cost: $50 per person, includes registration, lunch and refershments

In 2001, Genetic Alliance Australia (GA) was approached by a number of people to set up a support group for people living with an inherited gene fault predisposing them to certain cancers. At the first meeting it was agreed that an annual information day was preferred. Consequently each year, in October, an information seminar has been held.

The information day programme has presentations from doctors, genetic counsellors and individuals. Conducted in an informal setting, the day gives people the opportunity to receive up-to-date information and the chance to share stories, to network and to ask questions.

Who attends? Those at higher than population risk of the cancers associated with faults in the genes BRCA1/2/unknown gene faults, their family and support people.

To view the information brochure click here.

To register for this event, please click here.




RESEARCH | Parenting a child with a rare disease: parent mental health and well-being    |     

With little existing research in this field and no known research on this topic in Australia this is an important opportunity to be a part of developing an understanding of the unique experience of parenting a child with a rare disease.

Participation simply involves completion of a short online survey with participants eligible to enter a draw to win one of four $100 COLES SUPERMARKET GIFT VOUCHERS!

Parents who have a child aged 6 to 18 with a rare disease are invited to take part in this research project which involves completing an online questionnaire that will take approximately 30 minutes.

You will be asked questions relating to your mood, as well as your child's health and development. You will also be asked a series of questions to see whether you have experienced or witnessed difficult or stressful events that sometimes happen to people (e.g., natural disaster, serious accident at work, life-threatening illness).

In addition to answering these questions, you will be asked to provide your first name and email address so that David Austin and Alexandra Schnabel have the opportunity to potentially contact you to extend an invitation to participate in the second phase of this project. The second phase of this project involves a telephone interview which will further enrich our understanding of your parenting experience and provide us with an opportunity to explore any elevated levels of stress you may have reported in the online questionnaire.

The information you share with us for this research project is critical for the development of a new framework which we anticipate will better encapsulate some parents' experiences of raising a child with a rare disease. Furthermore, we expect this project to increase awareness of the importance of parent mental health, both in research and in clinical practice.

Once you have completed the online questionnaire, your contact details will be entered into a draw to win 1 of 4 $100 Coles Myer gift vouchers.

To participate or learn more, click here www.rarediseaseparents.org.au




NEWS | Australia's first Whole-Genome testing service to be launched today    |      27th July 2016

**MEDIA RELEASE FROM GARVAN INSTITUTE OF MEDICAL RESEARCH**

The Garvan Institute of Medical Research's Kinghorn Centre for Clinical Genomics will launch Australia's first clinical whole-genome sequencing service at an event today in Sydney. This new service could triple the diagnosis rates for Australians living with rare and genetic conditions.

The Garvan Institute's Executive Director, Professor John Mattick AO FAA said that the launch will mark a turning point in disease diagnosis and health care in Australia.

"This new service extends cutting edge genomic technology beyond the research lab. We now have the ability to provide answers to many of the hundreds of thousands of Australians affected by genetic disease.[i]

"We are on the precipice of a tremendous revolution in health care. The more we understand about the whole genome, the greater our ability is to make life-changing diagnoses for genetic conditions and help patients receive the right treatment faster.

We are at the forefront of genomic discovery and understanding – it is a very exciting time," Professor Mattick said.

This Australian funded whole-genome sequencing service is the result of a two and a half year development at the Garvan Institute's Kinghorn Centre for Clinical Genomics in conjunction with NSW Health Pathology - the country's largest provider of public pathology services.

The service will be offered by Genome.One, a newly established health information company that is owned by, and based at, the Garvan Institute of Medical Research in Sydney.

Bill Ferris AC, Chair of Innovation and Science Australia and past Chair of the Garvan Institute, said, "Genome.One is a wonderful example of how the superb medical research and technology in our country can be translated into innovative health advances and real economic benefits."

Patients seeking a diagnosis for a possible genetic condition will be referred to a clinical genetic service who will work with NSW Health Pathology to assess whether whole genome sequencing can provide an answer.

Those who may benefit will then be able to access the service from Genome.One who will screen all 20,000 genes at one time, providing a faster, more accurate and comprehensive service than any other genetic testing in the country.

The new service will be able to help hundreds of thousands of Australians who currently live with a genetic condition1, many of which are rare and challenging to diagnose. This new service will increase the diagnosis rates of these conditions from around 20 per cent to 40 – 60 per cent.

Dr Marcel Dinger, Head of the Kinghorn Centre for Clinical Genomics predicts that the impact of this new service will be significant:

"For families, receiving an accurate and timely diagnosis could result in access to new treatments and therapies as well as a clearer understanding of the journey ahead," he said.

"This one test puts an end to the long and complicated journey to diagnosis that at the moment, many families endure. The value the test provides is not confined to benefits to the patient, it will have economic benefits to the health care system as well.

"We are looking forward to working with local and international clinical and research communities to grow our knowledge of the human genome. This will ultimately lead to further breakthroughs and a greater understanding of how each person's unique genome affects their individual health," Dr Dinger added.

The ability to diagnose a rare disease also provides the opportunity for patients and clinicians to connect with others who have the same diagnosis around the country and the world, allowing them to better understand and potentially treat their condition, as well as providing a much needed support network.

Families who are currently searching for a diagnosis of a genetic disease should speak to their genetic specialist about whether Genome.One's new test is appropriate for them.

For further information, please contact:

Thomas Skinner Simone McKay
SenateSHJ SenateSHJ
02 9256 9700/ 0451 147 528 02 9256 9700/0430 551 906
thomas@senateshj.com.au simone@senateshj.com.au

About the Garvan Institute of Medical Research

The Garvan Institute of Medical Research is one of Australia's largest medical research institutions and is at the forefront of next-generation genomic sequencing in Australia. Garvan's main research areas are: cancer, diabetes and metabolism, immunology and inflammation, osteoporosis and bone biology, and neuroscience. Garvan's mission is to make significant contributions to medical science that will change the directions of science and medicine and have major impacts on human health. In 2012, Garvan established Australia's first purpose‐built facility for undertaking clinical-grade genome sequencing and large-scale research projects. The Kinghorn Centre for Clinical Genomics (KCCG) researchers undertake collaborative projects and genome‐based studies to improve genome interpretation, with the aim of advancing the use of genomic information in patient care.

About Genome.One

Genome.One (www.genome.one) is a pioneering health information company providing genetic answers to life's biggest health questions through clinical Whole Genome Sequencing. Genome.One aims to enhance the lives of patients, families and communities across the world. Genome.One is a wholly owned subsidiary of the Garvan Institute of Medical Research, Sydney, Australia.




NEWS | Breast cancer battle: Australian breakthrough offers new hope    |      21st June 2016

With her mother and grandmother lost to cancer, the only option available to Kylie Gellie was to remove her breasts, fallopian tubes and ovaries. The surgeries were dramatic and invasive, things she hopes her two daughters - Sienna,3, and Jasmine, 9 - won't face as young women.

Promising research published in Nature Medicine today has found an existing drug may prevent breast cancer in the estimated one in 400 women carrying the faulty BRCA1 gene. The team, led by Australian researchers, has found injections of an inhibitor reduced the proliferation of pre-cancerous cells in BRCA1 breast tissue in mice and three Melbourne women carrying the gene mutation.

Now, the first international human trial is expected to begin within two years. It could mean cancer prevention for the high risk group of carriers, which includes Hollywood actress Angelina Jolie Pitt, would be reduced to a handful of injections. Angelia Jolie Pitt had a preventative double mastectomy after discovering she carried the faulty BRCA1 gene.

The study was led by professors Geoff Lindeman and Jane Visvader from Melbourne's Walter and Eliza Hall Institute, and PHD student Emma Nolan. They used healthy breast tissue donated by women like Ms Gellie before undergoing surgery to pinpoint cells that give rise to breast cancer in faulty BRCA1 genes. The researchers discovered these rogue cells could be identified by a marker protein called RANK, a breakthrough that turned their studies towards an existing drug called denosumab.

Denosumab is used as an inhibitor of RANK in osteoporosis and breast cancer that has moved to the bone. When they used the drug on the donated breast tissue, the pre-cancerous rogue cells stopped dividing, or were "switched off". "By blocking the activity of this RANK receptor we could switch off the proliferation of these cells that are ultimately predisposed to becoming cancerous," Professor Visvader said.

Further tests of the inhibitor on BRCA1 mice found two thirds of them did not go on to develop tumours, the research shows.
"It is very exciting to think that we may be on the path to the 'holy grail' of cancer research, devising a way to prevent this type of breast cancer in women at high genetic risk," Professor Visvader said. Professor Lindeman, who is also a medical oncologist at The Royal Melbourne Hospital, said a pilot study of the drug on three human BRCA1 carriers in Melbourne had also shown a significant reduction in the number of dividing cells. The women had been given a short series of injections. "The hope would be that this would either prevent or delay tumour development in BRCA1 mutation carriers," Professor Lindeman said.

"Women who have BRCA1 mutations have few options ... in terms of prevention. The only thing that's really proven is mastectomy, which is highly effective but invasive." He said the next step - large clinical trials - would likely take another decade.
If found to have merit, the injection method would come in time for Ms Gellie's daughters.

"The women in my lineage don't survive," she said. "My girls are nine and three and I think that they most probably carry this gene as well because it is very strong in my family. "I'm the first generation who will survive and my next step now is to help my girls.
"Maybe they don't have to go through such drastic measures as I did or maybe it can buy them some time." Before deciding to go under the knife, Ms Gellie was told her chances of developing breast cancer were as high as 80 per cent and she had a 65 per cent chance of ovarian cancer. Further information about Professor Lindeman's BRCA1 pilot study is available here.

Original published in the Sydney Morning Herald - artcile found HERE 




NEWS | NSW Health Genomics Grants Announced    |      27/4/16

Six NSW research teams will receive support from the NSW Government to investigate the genomic underpinnings of diverse diseases, it was announced today. The funding, which forms part of the 2015/16 NSW Health Genomics Collaborative Grants Program, was announced by Minister for Medical Research Pru Goward and NSW Premier Mike Baird, during a tour of Garvan's Kinghorn Centre for Clinical Genomics.

The successful projects were awarded for the study of:

- Blinding genetic retinal dystrophies (led by Associate Professor Robyn Jamieson, University of Sydney);
- Primary immunodeficiencies (led by Dr Tony Roscioli, Garvan Institute of Medical Research);
- Gene identification in Mendelian disorders (led by Dr Tony Roscioli, Garvan Institute of Medical Research);
- Severe epilepsy (led by Dr Tony Roscioli, Garvan Institute of Medical Research);
- Genetic disorders of bone (led by Professor Andreas Zankl, Sydney Children's Hospital Network); and
- Inherited heart diseases (led by Professor Chris Semsarian, Centenary Institute).

In announcing the funding, Minister Goward said, "These grants will help our researchers continue to advance how patients can benefit from this groundbreaking science and the role genomics research can play in identifying individualised treatments based on a patient's genetic makeup."

Garvan's Deputy Director, Professor Chris Goodnow, said that the grants were a far-reaching investment by NSW Health in the development of genomics expertise among the clinicians and researchers of NSW, and that the funding would ultimately enable families to benefit from the transformation of healthcare through genomics.

The NSW Genomics Collaborative Grants Program (an arm of the Sydney Genomics Collaborative) supports researchers as they undertake groundbreaking human genomic medicine research. The grants give NSW researchers access to whole genome sequencing services at the Kinghorn Centre for Clinical Genomics. In this, the second funding round for the program, $1.54 million was made available for the study of diseases caused predominantly by mutations in a single gene.




GA EVENT | Filling the Void: TAREE    |      Monday 9th May 2016

GA will be heading to Taree on the 9th of May as part of our Filling the Void project. There will be two sessions presented:

FOR PATIENTS AND CARERS of children with a rare genetic condition
GENETICS and the CARING ROLE: workshop and networking lunch. Come along for a relaxing lunch and a chance for you to meet other parents and carers.This is a great opportunity to network with others who are in the same boat as you, a chance to share your experiences and stories. Guest speaker: Bruce Hopper, Genetic Counsellor Children, Young People & Families –Lower Mid-North Coast Cluster, Taree.

The session will cover:
•Updates in genetics
•Coping strategies & feelings
•Accessing services and navigating the healthcare system

When: Monday 9thMay 2016
Time: 11.30am –2.00pm
Where: Grevillia Room, Taree RSL and Golf Club,121 Wingham Road, Taree NSW 2430
COST: FREE
Lunch will be provided.

FOR PROVIDERS OF CHILDREN'S SERVICES, ALLIED HEALTH PROFESSIONALS, DISABILITY SECTOR, SOCIAL WORKERS AND EDUCATORS
Information session on genetics and support services: This meeting will focus on rare genetic conditions, the genetic revolution and how it affects caring. Come and learn about Genetic Alliance Australia and how we collaborate to improve support for families caring for someone with a genetic condition.

Date: Monday 9th May 2016
Time: 3.00pm – 5.00pm
Venue: Grevillia Room, Taree RSL and Golf Club, 121 Wingham Road, Taree NSW 2430
Afternoon tea will be provided.

To attend either of these events, please register by contacting
Doriane Ranaivoharison, Projects Manager
Email: projects@geneticalliance.org.au
P: (02) 9295 8314 or (02) 9295 8359




NEWS | 2nd Patient Innovation Awards    |      7th April 2016

A STATEMENT FROM THE PATIENT INNOVATION ADVISORY BOARD

"Patient Innovation (PI) empowers patients, caregivers, and collaborators by giving them a place where they can share their solutions. The PI Awards has been established to celebrate the innovators from our community who stood out with the impact and novelty of their solutions. In the first edition of PI Awards we had six winners. This year, we faced a new challenge of analyzing more than 300 new solutions and reward the ones who, although suffering, find the strength to overcome their health problems and innovate. That's what is inspiring us all. We selected seven innovators for the 2nd edition of PI Awards. They win the laurels for innovating, sharing and improving lives while facing adversity and challenges."

Warm congratulations to all winners.

We're proud of you.

And the Winners are:

PATIENT INNOVATION CATEGORY: Michael Seres (UK)

CONDITION: CROHN'S DISEASE
INNOVATION: OSTOM-I™

Michael Seres was diagnosed with Crohn's disease at the age of 12. After several surgeries, and intestinal failure, he underwent a small bowel transplant at The Churchill Hospital in Oxford. After an ileostomy he was given a stoma, in 2011, when he was 41, which is a surgical procedure where the small bowel is diverted through an opening in the abdomen. The opening is known as a stoma, from where his digestive content leave the body through a medical bag called ostomy bag. He had no control of the volume of output and when it happens. He had to learn to monitor the amount and consistency of his bowel movements. That's how he came up with Ostom-i Alert: a sensor-based device that can be attached to any ostomy bag and is able to send messages via Bluetooth to a mobile app to warn the patient when his bag is close to being full. The device is approved by the Food and Drugs Administration as a Class 1 medical device, as well as Medicines and Healthcare Products Regulatory Agency approval in Britain and CE Mark that covers the rest of Europe.

FOR MORE INFORMATION, PLEASE CONSULT THE FOLLOWING LINK:
https://patient-innovation.com/condition/crohns-disease?post=760

SERIAL PATIENT INNOVATION CATEGORY: Giesbert Nijhuis (Netherlands)

CONDITION: PHYSICAL DISABILITY (TETRAPLEGIA)
INNOVATIONS:
1. HOW TO TAKE PHOTOS WITHOUT USING HANDS
2. BED COMPUTER
3. LAESIECUSHION

Giesbert was 26 years old when he broke his neck at the cervical level (C3/C4) in a bus accident. He can only move his head. Giesbert was awarded in a new category – Serial Patient Innovation Award – due to the commitment devoted to diffuse his solutions and empower more patients with the same or similar condition. This innovator created his own website where he shares his knowledge and solutions to cope with his daily life problems, Laesieworks. Among several creations Giesbert developed, Patient Innovation highlights three fantastic do-it-yourself solutions: a digital camera-based system, which enables him to take photos without hands, a bed computer so Giesbert can work on his laptop while in bed and Laesiecushion, wheelchair cushions to prevent pressure wounds for wheelchair users.

FOR MORE INFORMATION, PLEASE CONSULT THE FOLLOWING LINKS:
https://patient-innovation.com/condition/physical-disability?post=1143 
https://patient-innovation.com/condition/physical-disability?post=1142 
https://patient-innovation.com/post/1195 

CAREGIVER INNOVATION CATEGORY: David Day (UK)

CONDITION: CYSTIC FIBROSIS
INNOVATION: COMPUTER GAMES TO HELP WITH CYSTIC FIBROSIS

David Day thought that creating a game that demands respiratory exercise would be a good way of getting his daughter Alicia to interact and engage more with her physiotherapy. After he came up with the idea he asked his workmates at the University of Derby's School of Mathematics and Computing to help him. Day and his team used university funding and European grants to develop a range of games that transformed the breathing exercises into something more fun. The games are played using a device that connects breathing tubes to the computer and his daughter suffering from cystic fibrosis can control characters and shapes on screen by exhaling at a certain pressure. This innovator is hoping to secure further funding to test the game on more children and eventually make it available to other parents.

FOR MORE INFORMATION, PLEASE CONSULT THE FOLLOWING LINK:
https://patient-innovation.com/condition/cystic-fibrosis?post=688

CAREGIVER INNOVATION CATEGORY: Doron Somer (Israel)

CONDITION: AUTISM
INNOVATION: ANGELSENSE

Doron Somer, from Israel, created AngelSense, a monitoring technological solution designed for children with special needs such as Asperger's Syndrome and Autism. His autistic son suffered mistreatment from a social worker, so Doron decided to find a way to monitor him. AngelSense is a personal GPS device designed specifically for special needs children, who often have sensory issues or compulsive behaviors that cause them to ditch other wearables. Parents and caregivers can keep track of their child also using AngelSense to share photos and information to get a holistic picture of the child's daily activities.

FOR MORE INFORMATION, PLEASE CONSULT THE FOLLOWING LINK:
https://patient-innovation.com/condition/autism?post=1019

CAREGIVER INNOVATION CATEGORY: Kenneth Shinozuka (USA)

CONDITION: ALZHEIMER'S DISEASE
INNOVATION: SAFEWANDER™

Kenneth is an American teen passionate about technology. This inventor's grandfather suffers from Alzheimer's disease. To prevent his grandfather from wandering alone at night and get lost, Kenneth created a wearable sensor designed to send an alert to a caregiver whenever a patient gets out of bed. SafeWander™ is a thin pressure-sensor that attaches to any piece of clothing and alerts the caregiver when the patient gets out of bed. The flexible film contains a wireless circuit about the size of a quarter. Via Bluetooth, it connects with a smartphone app (which Shinozuka also designed), setting off a sound.

FOR MORE INFORMATION, PLEASE CONSULT THE FOLLOWING LINK:
https://patient-innovation.com/condition/alzheimers-disease-incl-subtypes?post=717

CAREGIVER INNOVATION CATEGORY: Pavel Kurbatsky (Russia)

CONDITION: BLINDNESS
INNOVATION: WALKING TALKING STICK

Pavel is a young Russian who worked as a volunteer in a care home for disabled children. Pavel developed this device because he thinks that blind people have a hard time moving around and living in an environment that is badly designed for them. This walking cane and "talking" dark glasses help blind people navigate through unknown environments. The cane contains sensors that can trace obstacles at three levels: the head, waist and feet. When a blind person approaches an obstacle, he or she gets a signal that something is nearby. A recorded voice tells how many steps ahead is the obstacle. The voice comes from earphones built in the glasses, which have a GPS system integrated.


FOR MORE INFORMATION, PLEASE CONSULT THE FOLLOWING LINK:
https://patient-innovation.com/condition/blindness?post=732

CAREGIVER INNOVATION CATEGORY: Duncan Fitzsimons (UK)

CONDITION: PHYSICAL DISABILITY
INNOVATION: MORPH™ WHEELS

Duncan invented this solution when he was a graduate student at the Royal College of Arts in London. He was presenting folding wheels for bicycles in a roadshow when a wheelchair user approached and said: "Yes! This is the missing piece!". The man told him his story and explained the difficulty for a wheelchair user to find a wheelchair for travelling by airplane. The wheelchair user asked him to help to adapt the same concept to wheelchairs. The Morph™ Wheels allows users to fold their wheelchair up into a much smaller, neater package, so it can fit into the overhead locker of an airplane, or the trunk of a car.

FOR MORE INFORMATION, PLEASE CONSULT THE FOLLOWING LINK:
https://patient-innovation.com/device/wheelchair?post=1111

THE PI AWARDS CEREMONY will be held in NOVEMBER, 2016

Patient Innovation is a nonprofit, international, multilingual, free venue for patients and caregivers of any disease to share their innovations. PI is an initiative by Católica Lisbon School of Business and Economics in collaboration with Instituto de Medicina Molecular

info@patient-innovation.com

+351 217214109




EVENT | Williams Syndrome Newly Diagnosed Morning Tea    |      21st March 2016

You are warmly invited to a Meet and Greet Williams Syndrome Morning Tea For parents and carers of newly diagnosed children with Williams Syndrome.

Come along for a relaxing morning tea and a chance for you to meet other parents and carers. This is a great opportunity to network with others who are in the same boat as you, a chance to share your experiences and stories

WHEN: Monday 21st March 2016
TIME: 10.30am to 1.00pm
WHERE: Aza Room, Level 5, Garvan Institute of Medical Research
384 Victoria St, Darlinghurst NSW 2010
COST: FREE

Please RSVP by 18th March for catering purposes by contacting Dianne on 02 9295 8359 or email dianne@geneticalliance.org.au




EVENT | Support Group Leadership Meeting    |      25th February 2016

The Support Group Leadership meetings are a way for support group leaders to network, share and update others on their groups, as well as bring up any issues they are coming across. In the past leaders have mentioned that the group was a great way to share ideas about providing peer support, training and just a great way to 'unload' or talk about common issues. They are also a way to collaborate on projects, research or brainstorm ideas for advocacy or events.

Date: 25th February 2016

Time: 10:30am to 12:30pm

Venue: Garvan Institute of Medical Research, Level 6,
384 Victoria Street, Darlinghurst, NSW 2010

AGENDA
10.30am – 10.35am Welcome
10.35am – 10.40am Groups introduction
10.40am – 11.00am Tour of the Kinghorn Research Centre
11.00am – 11.20am GUEST SPEAKER: A/Prof Marcel Dinger Head - Kinghorn Centre for Clinical Genomics Lab Head - Genome Informatics Principal Research Fellow
11.20am – 12.10pm Plans for each group for this year
Opportunity for description of your group plans for 2016 and potentials for collaboration
11.50am - 12.30pm Other updates, topics of interest and issues
12.30pm Date for follow up meeting and close.


If you are intetrested in attending, please contact Doriane on 02 9295 8314 or email projects@geneticalliance.org.au.

We look forward to seeing you at Genetic Alliance Australia!


To register:



Rare Diseases Day    |      29 Feb 2016

29 FEBRUARY 2016 IS RARE DISEASE DAY!  Spread the word...




NEWS | Point to Point transport reforms deliver wins for regional NSW    |      17 December 2015

The reforms are part of the NSW Government's response to the Sturgess Point to Point Transport Report, which handed down its findings last month following more than 5,000 submissions from industry and the public.

Mr Constance said taxis provide essential transport services in rural and regional NSW and it was critical that regional areas gain from today's decision.

"Every town and regional centre has demand for services like taxis, hire cars and community transport operators, so ensuring their survival is essential," Mr Constance said.

The reforms consist of three main components for regional areas:

The immediate repeal of more than 50 taxi and hire car regulations
The requirement for booked services to only operate in a particular town or region has been removed, allowing more services in high demand times and at major regional events
The introduction of annual licenses outside of Sydney, making it easier for customers in country towns to get a taxi when they want one
"All up the reform package cuts the regulatory cost to industry by $30 million each year.

"For the first time aspiring small business operators will be able to use their own private vehicle to enter the new transport economy and cater to local demand – providing they comply with the safety regulations we've enacted today."

Mr Constance said in recognition of the potential impact these changes will have on existing taxi and hire car licence holders, the NSW Government has set aside a $250 million adjustment assistance fund to help licence owners adjust to the new regulatory framework.

"It's important that we don't forget those who have poured their savings into taxi licences over the past decades and ensure they get equitable assistance as this industry changes our economy," Mr Constance said.

The cost of this assistance will be recovered through a levy on all point to point transport providers, equivalent to $1 per trip for a maximum of 5 years. It will be up to service providers to decide whether or not they choose to pass on this cost to their customers.

For more information go to www.transport.nsw.gov.au/pointtopoint




NEWS | First children diagnosed in 100,000 Genome Project (UK)    |      12 January 2016

The first children with debilitating "mystery" diseases have finally been given a diagnosis as part of a huge scheme to analyse people's DNA.

Four-year-old Georgia Walburn-Green's damaged eyes and kidneys and her inability to talk had baffled doctors. She is one of the first to have her precise genetic abnormality identified through the 100,000 Genomes Project. Her parents said the day Georgia was finally diagnosed was one of the biggest of their lives. If a child is born with Down's syndrome or a heart defect, then families know what to expect.

Yet Georgia's mum and dad - Amanda and Matt - had only 20 minutes of "worry-free cuddling" when Georgia was born before their "world went from totally happy to totally devastated". Doctors initially thought Georgia had water on the brain because of the size of her head. She was given a tentative all-clear, but doctors knew something was wrong - they just could not identify what.
It was the start of more than four years of uncertainty for the family.

Amanda said: "That was very hard, I assumed if she was poorly, you go to hospital and it might be awful, but you'd know what's wrong and you deal with it. "We didn't know if she would walk or talk or have a normal life expectancy. "It's been a rollercoaster of what's going to turn up next, you're just on this unknown journey slowly finding problems." Georgia's parents say she is a happy, social, animal-loving four-year-old with a knack for "wrapping people round her little finger".

But she has not grown as quickly as other children, has lumps inside her eyes which affect her sight and kidneys that do not work properly. "And we don't know if she'll ever speak, she understands us and desperately tries but can't make the sounds she wants to," her mum added. Doctors suspected Georgia's symptoms were down to errors in her DNA, which may have been inherited from her parents. And that meant Amanda and Matt were not prepared to risk having another child.

The 100,000 Genomes Project is focused on understanding the genetics of cancer and rare diseases such as the one affecting Georgia.

Scientists at Great Ormond Street Hospital performed a giant game of spot the difference between the entire three billion base pairs which make up each of Georgia, Amanda and Matt's DNA to find what went wrong. Just before Christmas, doctors told them the genetic abnormality - in a gene called KDM5b - had been identified. "That was one of the biggest days of my life, we've been searching for this for four years," Amanda said. While the knowledge will not change the way Georgia is treated today, it offers hope that there will be a therapy in the future. And in good news for the Walburn-Green family, Georgia's mutation arose spontaneously rather than coming from her parents - meaning they will try to add to their family.

New treatments
However, some children such as Jessica are already benefitting from the 100,000 Genomes Project. Again, despite repeated tests, her condition which included epileptic seizures remained undiagnosed. But analysing her and her parents' DNA discovered an error causing GLUT1 Deficiency Syndrome. She is unable to transport sugar into her brain's cells, which is leaving it starved of energy. But a high fat - or ketogenic - diet should give the brain an alternative energy source meaning less epilepsy medication is needed.

Prof Lyn Chitty, who is leading the project at Great Ormond Street, said: "It's really exciting to see the results coming through and the difference this can make for families. "It increases confidence in the project and shows that the application of genomics can live up to the promise of changing the way we diagnose and treat patients in the future." The first adults were diagnosed through the 100,000 Genomes Project in Newcastle last February.




NEWS | Genetic Alliance Australia - Closed over Christmas    |     

Genetic Alliance Australia will be closed from the 16th of December 2015 till the 5th of January 2016.

Please feel free to leave a message on our answering machine (02 9295 8359) or send us an email (info@geneticalliance.org.au) and we will get back to you as soon as we are back in the office. From all of us here at Genetic Alliance Australia, we'd like to say thank you for all your support over 2015, we look forward to returning in 2016! We hope you all enjoy the holiday season and we wish you all a Happy New Year! 

(L-R) Matthew Joyce (Social Media Officer), Ayesha Wijesinghe (Office Manager), Doriane Ranaivoharison (Projects Manager) and Dianne Petrie (Executive Director). [Absent - Mea Protey, Policy Officer]




NEWS | Rare Artist 2015    |      -

The EveryLife Foundation for Rare Diseases is pleased to announce the 7th Annual Rare Artist Contest, which celebrates the unique talents of the rare disease community. Once again, we will be hosting the contest on Facebook, maintaining many of the popular changes that were made last year.

Entrants are allowed to submit one piece in the contest for their age group, so please choose your best work. We accept photos of art in the following forms: painting, photography, mixed media, collages, pottery, and sculptures.

Two awards will be given in each category (one decided by popular vote and one decided by a panel of rare disease community leaders):
Children (4-11): $100 gift card
Teens (12-17): $250 gift card
Adults (18+): $500 gift card
Adults- Photography/Digital Art (18+): $500 gift card

Winning pieces will be displayed in Washington DC at the EveryLife Foundation's Rare Artist Reception, held during Rare Disease Week on Capitol Hill. Those artists will be eligible for travel stipends through The EveryLife Foundation for Rare Diseases Rare Giving program in order to attend the reception on March 3rd.

If you have questions or concerns about the contest, please email Grant Kerber at gkerber@everylifefoundation.org or visit http://www.rareartist.org/2015-art-contest/




EVENT | Genetic Alliance Australia Annual General Meeting    |      28/1/2016

Venue: Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst NSW 2010

Date: 28th January 2016

Time: 5:00pm to 6:30pm

RSVP by 22nd January 2016 for catering purposes. Light refreshments will be served 

Downloads (PDFs)

■  AGM Agenda

■  AGM Election Form

■  AGM Proxy Form

■  Nomination Form




EVENT | BRCA Info Day UPDATE    |      18th October 2015

Due to a low response rate, our BRCA1/2 Info Day Video-conference outreach centres in Port Macquarie and Wollongong will not be going ahead on Sunday 18th October. There are still spots available for the LIVE conference in SYDNEY, and the video-conference out reach centres in CANBERRA, NEWCASTLE, DUBBO, TAMWORTH and BATHURST. Please contact us if you are interested in attending (02 9295 8359, info@geneticalliance.org.au)




NEWS | Breast cancer gene BRCA-1 cannot be patented, High Court rules    |      7th October 2015

Two-time cancer survivor Yvonne D'Arcy, from a modest neighbourhood on the outskirts of Brisbane, has led the legal battle over the ownership of the patent by US company Myriad Genetics.

At the heart of the case was the concern that ownership of the gene patent could stifle the research and development of treatments for genetic diseases.

Ms D'Arcy argued the genes existed in nature so were discovered rather than invented.

Lawyers for Ms D'Arcy told the High Court the genetic material covered in the patent was merely isolated, and was not eligible to be patented under Australian law.

But Myriad Genetics argued patents ensured innovation could be commercialised for everyone's benefit.

Myriad argued it held the patent over the BRCA-1 and BRCA-2 genes which, if present, dramatically increase a woman's chance of developing breast and ovarian cancer.

The company succeeded twice in the Federal Court, but the High Court has today overturned those decisions.

Before the Australian case, in 2013 the United States Supreme Court also ruled against the patent.

Specifically the US Court ruled that naturally occurring DNA was a product of nature and not patentable.

But the court did recognise synthetic DNA created in a laboratory, known as cDNA, was not a product of nature and could be patented.

Myriad Genetics' lawyers said the law in the US did not reflect the law in Australia and the legal test in the US differed, asking only if the material "is a product of nature".

Invention claimed not within concept of 'manufacture'

In Australia, what is known in legal terminology as "the manufacture test" applies.

This arose from a case in 1959, when the court ruled in favour of patenting a new type of weed killer that did not harm crops, but was made from already known compounds.

Myriad Genetics said the patent applies to a product, an isolated nucleic acid, that is chemically, structurally and functionally different to naturally occurring DNA.

Myriad said under Australian law the emphasis was on the differences in the structure and function of the genetic material, and not the similarities, as it would be in the US.

The company believed the US ruling supported the Australian patent, as the material in use was isolated from the gene, creating a "non-naturally occurring molecule".

Today the High Court unanimously upheld Ms D'Arcy's appeal and held that the invention claimed did not fall within the concept of "manufacture".

In a summary of the case, the court found: "While the invention claimed might be, in a formal sense, a product of human action, it was the existence of the information stored in the relevant sequences that was an essential element of the invention as claimed."

Actress Angelina Jolie drew attention to the BRCA-1 gene in 2013 when she revealed she had a double mastectomy after she learned she carried the gene, which has killed several women in her family.




EVENT | Electricity and NSW Local Government Information Session    |      19th November 2015

LGP contracts have a proven track record of achieving significant savings through the aggregated purchasing power of local counsels across NSW.

Join LGP for a free information session on electricity and aggregated purchasing for Not for Profit organisations followed by a complimentary buffet lunch

Date: Thursday 19th Nov 2015

Time: 11am -12noon

Venue: Sydney Masonic Centre Conference and Function Centre (66 Goulburn St, Sydney NSW 2000)

RSVP: Spaces Limited, please register at www.lgp.org.au/nfp by Thursday 12 Nov. For further information please contact Michelle Gavri (8270 8700, mgavri@lgp.org.au)

Who is Local Government Procurement (LGP)?
LGP is a prescribed entity under s55 of the Local Government Act 1993 (NSW) and wholly-owned subsidiary of Local Government NSW (LGNSW). LGP's core business is establishing contracts with panels of suppliers across categories of goods and services after a full tender process. This process follows comprehensive legal, due diligence and probity systems. LGP also provides a fully-integrated procurement service.

Why should I use LGP contracts?
- Decrease reputational risks: Every contract follows rigorous due diligence, probity and compliance requirements. LGP's status as a Prescribed entity under s55 of the Local Government Act 1993 (NSW) provides organisations with additional assurance.

- Dedicated support through your own business manager: Receive ongoing individual support, LGP manages all contracts and supplier relationships.

- Increase your organisation's savings in dollars and time: Better pricing via economies of scale and savings in time/opportunity costs in not tendering are estimated to be hundreds of millions of dollars.

How do I access LGP contracts?

Not for profit organisations must register their organisation here and create a website log in here in order to utilise LGP contracts.

Please contact Business Manager, Michelle Gavri mgavri@lgp.org.au for further information.




MEDIA RELEASE | Garvan Partners with Genomics England    |      25 September 2015

The Garvan Institute of Medical Research has signed a memorandum of understanding with Genomics England, the organisation established by the UK's Department of Health to deliver the world-first 100,000 Genomes Project. The two organisations will share resources and expertise to advance genomic medicine in Australia and the UK.

The 100,000 Genomes Project will sequence genomes from around 70,000 National Health Service (NHS) patients, focusing on individuals with rare diseases or cancer. Through the project, Genomics England aims to bring benefit to patients, build capability in the burgeoning area of genomic medicine, and advance medical research.

Under the terms of the agreement, Garvan and Genomics England will work together to make genomic information more accessible, meaningful and usable, particularly by developing better ways to capture clinical information and integrate it with genomic data.

In addition, the two institutions will collaborate to develop next-generation genomics databases and to establish clear ethical and legal frameworks around the use of genomic information. They will also collaborate to design educational resources about clinical genomics for health professionals and the wider public.

Professor John Mattick, Executive Director of Garvan, says that partnering with Genomics England is an important step in the development of Australia's genomics capacity.

Professor Mattick says, "This agreement is an important step for both nations. It enables us to use our complementary expertise to advance our shared vision of the global transformation of medicine through the use of genomic information."

Professor Mark Caulfield, Chief Scientist at Genomics England, says, "I am delighted we are collaborating with the Garvan Institute of Medical Research in Australia. This partnership will allow us to share tools and approaches to harmonise datasets in Australia and the UK. Our aim is to support other countries in establishing similar programmes to the 100,000 Genomes Project around the world."

As one of Australia's leading medical research institutions, Garvan develops research programs that combine leading-edge science with clinical outcomes. In 2012, Garvan established the Kinghorn Centre for Clinical Genomics (KCCG), the largest sequencing centre in the southern hemisphere. KCCG is undertaking research and developing innovative analytical pipelines to advance the use of whole-genome sequencing in clinical diagnosis and patient care.




NEWS | The Patient Innovation Awards 2015    |      11th September 2015

Carlos Moedas, European Commissioner for Research, Science and Innovation, Prof. Eric von Hippel, from MIT, and the six award winners, from Canada, EUA, Israel, United Kingdom and Portugal were the keynote speakers. The Patient Innovation Awards had more than 200 innovations in competition, and received the High Patronage of His Excellency The President of the Portuguese Republic.

The awards ceremony featured a full auditorium, and had a great feedback from the audience, keynote speakers and winners, as well as a strong presence in the media.

Speech of Carlos Moedas, European Commissioner for Research, Science and Innovation

Francisco Veloso, Dean of the Catholic Lisbon, opened the ceremony and said these awards show "the role of users, which when applied to health shows the enormous strength and the huge impact they can have. The Patient Innovation platform enables innovations to spread very fast and multiply their impact by millions of people." Watch his speech here.

Francisco Veloso, Dean of Catholic Lisbon, with Prof. Eric Von Hippel, MIT


The awards were given in three categories: Patient, Caregiver and Collaborator. The list of winners by this criterion figures as follows:

• Louis Plante, from Canada
DISEASE: CYSTIC FYBROSIS
CATEGORY:PATIENT
INNOVATION: THE FREQUENCER™
- Louis Plante suffers from Cystic Fibrosis, which has consequence the increasing risk of pulmonary infection, resulting from changes in secretions of mucus-producing glands. Louis used to spend four hours a day in kinesiotherapy (alternate beats in the chest and back) to reduce the problem, until that, during a concert, Louis noticed that the vibration produced by the speakers had a positive effect. Based on his experience in electronics, Louis developed the Frequencer™, a device that produces sound waves, which helps cleaning the lungs, by creating low energy resonant vibrations (acoustics), reducing mucus viscosity, which allows the mucus flow increasing in patients with Cystic Fibrosis. 




• Lisa Crites, from USA
CONDITION: MASTECTOMY CAUSED BY BREAST CANCER
CATEGORY: PATIENT
INNOVATION: THE SHOWER SHIRT ™
- Lisa Crites was diagnosed with breast cancer. After having a mastectomy, she was told not to wet the suture area, in order to avoid infection in the drains of insertion sites. This made showering difficult. That's when Lisa created a water proof shirt, The Shower Shirt™, helping other patients dealing with the same problem to shower normally, living with this condition with dignity. The Shower Shirt™ was already approved by the FDA, and is now available in 36 countries. 


• Tal Golesworthy, from UK
DISEASE: MARFAN SYNDROME
CATEGORY: PATIENT
INNOVATION: EXOVASC ®
- Tal Golesworthy, suffering from Marfan Syndrome, needed a cardiac surgery, and would be treated with anticoagulants for the rest of his life. He used his professional experience in engineering and his plumbing knowledge to design, along with his doctor, an external support for the aorta root - Personalized External Aortic Root Support (PEARS). Since this support was put in his heart, ten years ago, the same technic has been used in 56 patients to prevent the aorta rupture. 


• Debby Elnatan, from Israel
DISEASE: CEREBRAL PALSY
CATEGORY: CAREGIVER
INNOVATION: UPSEE ™
- Debby's youngest son was born with cerebral palsy. Despite of not being able to move or participate in the family walks, Debby didn't give up. She tried several ways to "connect" her son to herself, which led to Upsee™. With the Upsee™, her son is able to "walk" as any other child, and can now participate in the family activities. Upsee™ helps children in similar conditions to "walk" and participate in social events. 


• Joaquina Teixeira, from Portugal
DISEASE: ANGELMAN SYNDROME
CATEGORY: CAREGIVER
INNOVATION: HELIUM BALLOONS
- Joaquina's son, Gonçalo, suffers from Angelman Syndrome, a disease characterized by developmental delay, inability to speak, convulsions and psychomotor problems. Despite of being six and able to walk, Gonçalo refused to stand up. One day, at a party, Joaquina noticed that the helium ballons on the ceiling were getting Gonçalo's attention, making him to try to grab the balloons, and by doing so, he was standing up. On that very day, Joaquina put helium balloons all over her house and watched her son jump and walk, trying to grab the balloons. 




• Ivan Owen, from USA
DISEASE: AMPUTEES
CATEGORY: COLLABORATOR
INNOVATION: 3D PRINTED PROSTHETIC HAND
- Ivan Owen, an artist who makes entertainment products, posted on Youtube a video with "mechanical hands". A southern African carpenter, who lost some fingers while working in his shop, contacted him and asked if Ivan could help him designing and make a low cost prosthetic hand. Ivan accepted the challenge and started making low cost prosthetic hands for children. Later on, he shared his digital files to make these hands in 3D printers. His work has inspired a big and growing number of volunteers and makers that are now trying to make a difference (e.g. e-NABLE). 



NUNO – THE SEVEN-YEAR-OLD BOY
WHO GOT A 3D PRINTING HAND AND ARM
Nuno is a seven-year-old boy who received a 3D printing hand and arm produced by Ivan Owen and Salomé Azevedo, from the Patient Innovation team, on July 14.

After the Patient Innovation platform was launched, Carla, Nuno's mother, contacted the team to see if they could make a hand and arm for her son, based on 3D printing hand models created by Ivan Owen. Salomé analyzed the case, talked with Ivan Owen, and then realized that there were models currently developed by the Enable Community that they could be easily adapted to Nuno.

Nuno and his family were very excited to finally meet all the people who were willing to "give him a hand", and make this boy's life more colorful. So on July 10, this little fellow and his family came to Católica Lisbon to meet Ivan. The team took Nuno's measures and evaluated his strength. Thanks to Paulo from Media Markt, all the pieces were printed on time, and the team was able to assemble all the parts in one morning. The little guy actually helped a lot by sewing some pieces of his new red and white gadget.

The hand and arm were fully ready and working on the next day, July 14, when it was finally given to its fun new owner.

The Patient Innovation team made a heartwarming video that features both the making of a 3D printed arm and hand, and also Nuno experiencing his new gadget for the first time.

Ivan Owen, Nuno and Salomé Azevedo

Nuno's 3D Printed Arm

Nuno trying out his 3D printed arm
The PI team organized this event to acknowledge patients, caregivers and collaborators' innovations, and to inspire and stimulate more people to share their solutions with others on the PI platform.

Artur Santos Silva, president of Fundação Calouste Gulbekian, closed the ceremony with an inspiring speech.

Speech of Artur Santos Silva, President of Fundação Calouste Gulbenkian

The awards ceremony was sponsored by Fundação Para a Ciência e Tecnologia, Carnegie Mellon University Portugal Program, Fundação Calouste Gulbenkian, Janssen, Lilly, MSD, Pfizer, Bayer, Apifarma, and RTP.

Patient Innovation Awards "Family"

If you would like to watch any of the presentations from the awards CLICK HERE




NEWS | Rare Disease Day 2016 Theme and Slogan Announced    |      17th September 2015

NORD is excited to announce the theme for Rare Disease Day 2016 with EURORDIS, partner and the founder of this amazing event. We look forward to working with everyone to build on the successes of previous years and make this the best Rare Disease Day yet. Please click on this link or read the official announcement below.

Next year, 2016, will mark the ninth year that the international rare disease community celebrates Rare Disease Day.

On February 29, 2016, people living with or affected by a rare disease, patient organizations, politicians, caregivers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.

The Rare Disease Day 2016 theme 'Patient Voice' recognizes the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

The Rare Disease Day 2016 slogan 'Join us in making the voice of rare diseases heard' appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation.

Patients and patient advocates use their voice to bring about change that:

- Ensures that politicians continuously and increasingly acknowledge rare diseases as a public health policy priority at both national and international levels
- Increases and improves rare disease research and orphan drug development
- Achieves equal access to quality treatment and care at local and national levels, as well as earlier and better diagnosis of rare diseases
- Supports the development and implementation of national plans and policies for rare diseases
- Helps to reduce isolation sometimes felt by people living with a rare disease and their families
- Rare Disease Day amplifies the voice of rare disease patients so that it is heard all over the world.

The patient voice:

Is stronger when patients receive training so that patient advocates are equipped with the skills and information that they need to be able to represent the patient voice at the local, national and international level, within and on behalf of their patient organizations.
Is vital because rare disease patients are experts in their disease. In situations when there is often a lack of medical expertise or disease knowledge because a disease is so rare, patients develop expertise on treatment and care options. With this expertise, the voice of a rare disease patient is often more inherent to the decision-making process regarding their treatment or care options.
Is increasingly present and respected in the medicines regulatory process, during which patients bring real-life perspective to the discussion. This voice needs to be encouraged to become stronger all along the life cycle of the R&D process, from the early stages of development of a medicine, right through to when the medicine is in use in a wider population of patients. This will help to ensure that medicines are developed more efficiently and in turn will result in patients accessing more, better and cheaper treatments at an earlier stage.

For more information and updates please visit 




PRESS RELEASE | NDIS Agreements reduce uncertainty for the disability sector in NSW and Victoria    |      Tuesday 22nd September 2015

NDS welcomes the commitment to the NDIS from the new Prime Minister, Malcolm Turnbull, and assurances from the Government that the NDIS will be rolled out in full across Australia.

Dr Ken Baker continued: "Disability service organisations face large planning and investment decisions to prepare for the NDIS. The sector (and its workforce) will need to double in size in only a handful of years. Policy uncertainty surrounding key details of the NDIS's design and implementation impedes this planning. Today's welcome announcement fills some of the information gaps in NSW and Victoria." Said Dr Ken Baker. 

"Now that we know how the NDIS will be implemented in NSW and Victoria, it is important that we learn soon about implementation plans for the rest of Australia," said Ken Baker. 

"Today's bilateral agreements are a significant milestone in a large, complex and ambitious development. The NDIS will greatly enhance the support people with severe disability need to participate fully in community and economic life. 

"But significant hurdles lie ahead on the road to the NDIS. Eight out of ten disability service providers who responded to an NDS business confidence survey said that they find the policy environment uncertain. This includes the design of the future market for disability supports. 

Ken Baker concluded: "It is critical that the future market supports a diverse, purpose-driven, highquality and financially-sustainable service sector. An early problem is that some of the prices for services are less than the cost of provision. Unless these prices improve, market failure will result. NDS is willing to work with government agencies to develop a plan that ensures an innovative, sustainable and vibrant future market for disability supports." 

For more information about the roll out please visit: 

NSW: http://www.ndis.nsw.gov.au/ 

VIC: http://www.ndis.vic.gov.au/




IN THE NEWS | MPs vote in favour of 'three-person embryo' law    |     

MPs have voted in favour of making Britain the first country in the world to permit IVF babies to be created using biological material from three different people to help prevent serious genetic diseases.

In a historic debate, the House of Commons voted by 382 to 128 – a majority of 254 – to allow mitochondrial donation through a controversial amendment to the 2008 Human Fertilisation and Embryology Act. They approved the regulation in spite of some critics warning it was a step towards creating "three-parent" designer babies.

The regulations will now have to be approved in the House of Lords, where they are likely to be passed.

MPs were allowed a free vote on the issue of conscience but both the Conservative and Labour front benches made it clear they believed it was an important scientific step forwards that did not amount to genetic modification.

Jane Ellison, the Conservative public health minister, told MPs the techniques provided in the regulations offered the only hope for some women who carried the disease to have "healthy, genetically-related children" who would not suffer from the "devastating and often fatal consequences" of mitochondrial disease. She said mitochondrial DNA made up 0.054% of a person's overall DNA and none of the nuclear DNA that determined personal characteristics and traits.

Critics of the motion had been given hope of defeating it after the Church of England and the Catholic Church in England and Wales said it was not yet clear that the technique was safe or ethical.

Opposition was led by Conservative MP Fiona Bruce, who said parliament needed more time to debate the issues.

"I believe the regulations before us today fail on both counts, ethics and safety, and they are inextricably interlinked," she said. "One of these procedures we are asked to approve today, pronuclear transfer, involves the deliberate creation and destruction of at least two human embryos, and probably in practice many more, in order to create a third embryo which it is hoped will be free from human mitochondrial disease.

"Are we happy to sacrifice two early human lives to make a third?"

Several other MPs objected to the shortness of the 90-minute period for debate, saying a subject of such ethical controversy should be given more time for consideration. However, the minister said mitochondrial donation had been subject to extensive scrutiny for years and it was now time for MPs to vote.

Andrew Miller, the Labour chairman of the science and technology committee, urged his colleagues to back the "overwhelming interest" of those families who have suffered from mitochondrial disease.

"I put it to this house that the benefits to those – about 2,500 families – affected by mitochondrial disease up and down this nation, they deserve the support of this house because of the potential benefits," he said. "Yes, of course, we've got to assess the risks as we do with all risks but they've got to be done in a rational and balanced way."

Mitochondrial diseases are caused by genetic faults in the DNA of tiny structures that provide power for the body's cells. The DNA is held separately to the 20,000 genes that influence a person's identity, such as their looks and personality. Because mothers alone pass mitochondria on to children, the diseases are only passed down the maternal line.

Around 40 scientists from 14 countries have urged the British legislature to approve laws allowing mitochondrial DNA transfer.

The "three parent" IVF therapy, which could help to eliminate certain incurable genetic diseases, involves swapping a fraction of a mother's DNA with that from an anonymous female donor.
Around 100 children each year are affected by genetic defects in the mitochondria and in around 10 cases the defects cause severe illnesses such as liver failure, muscle wasting, blindness and brain damage.

The mitochondria sit outside the nucleus of cells and contain tiny quantities of DNA. Mitochondrial genes provide the cells' energy, rather than conferring inherited traits such as appearance, intelligence or personality, and are sometimes referred to as cellular "batteries".

The mitochondria are passed down the maternal line, meaning that any mutations are guaranteed to be passed on to the next generation.

However, scientists will now legally be able to prevent this happening by taking two eggs, one from the mother and another from a donor. The nucleus of the donor egg is removed, leaving the rest of the egg contents, including the mitochondria, and this is replaced with the nucleus from the mother's egg. This can be carried out either before or after the egg is fertilised with sperm.

Technically the baby would have three biological parents, with 99.8% of genetic material coming from the mother and father and 0.2% coming from the mitochondrial donor.
Dr Jeremy Farrar, director of the Wellcome Trust, said: "Families who know what it is like to care for a child with a devastating disease are best placed to decide whether mitochondrial donation is the right option for them. We welcome this vote to give them that choice, and we hope that the House of Lords reaches a similar conclusion so that this procedure can be licensed under the UK's internationally-admired regulatory system."
Prof Alison Murdoch, head of Newcastle Fertility Centre at Life, which has pioneered the IVF technique, said: "This is good news for progressive medicine. In a challenging moral field, it has taken scientific advances into the clinic to meet a great clinical need and Britain has showed the world how it should be done."




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