A Melbourne-based program will accelerate our understanding of rare diseases and develop new treatments for one in 12 babies born with a rare genetic condition.

The Murdoch Children's Research Institute's Rare Diseases Now (RDNow) program, launched today on the eve of Rare Disease Day (29 February), will bring together doctors, genetic counsellors, research scientists and bioinformaticians to tackle unanswered and important issues for families affected by rare disease.

There are more than 6000 known rare diseases, 75 per cent of which affect children. Almost one-third of these children will die before the age of five. The underlying causes of many of these diseases remain unexplained.

Victorian Clinical Genetics Services Associate Professor Sue White said the program's vision was for all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention. 

"We want to better understand the mechanisms causing rare disease," she said. "Ultimately, our aim is to develop prevention and treatment strategies that these families so desperately need."

RDNow will deliver genomic diagnoses and personalised care to offer more opportunities for families to participate in studies that will enhance our clinical and scientific knowledge of very rare conditions and provide greater care and support to children and their families. 

"RDNow aims to address a knowledge gap by developing a framework for patients with rare disease, expand access to genomics to all hospital departments and upskill non-genetics doctors in genomics so that more families can get answers from genomic tests," Associate Professor White said.

"We will also establish a recruitment pipeline so that more children with rare disease can access national and international trials. Achieving these goals will mean we can improve the lives of Victorian children with rare disease."

Murdoch Children's Professor David Thorburn said despite the progress in diagnosing rare diseases, and in genetic and genomic research, many Australian families still lack access to genomic testing. 

"In Australia, delays in obtaining accurate genomic diagnosis prevent early interventions, personalised care and future family planning," he said.

"Understanding causes and developing new interventions will not only improve children's lives but provide the evidence needed by policymakers to enable access to rapid and accurate genomic testing for all Australian families."

RDNow will be launched during the Genetic Support Network of Victoria (GSNV) Rare Disease Day event held at The Royal Children's Hospital today from 9:00 am - 4:00 pm. 

GSNV Chief Executive Officer Monica Ferrie said the event was a chance to raise awareness about rare diseases and acknowledge people with rare disease and those who support them. 

"This day provides an opportunity to focus on this part of our community that is often fighting for their voice to be heard," she said. 

"This year's theme 'Finding Your Voice' gives us the opportunity to inform the wider community of the challenges of living with a rare disease."

GSNV is inviting people with rare diseases, their families and support groups to come together to learn from each other's experiences to educate themselves on rare disease research initiatives and to help progress the support sector further. 

Rare Diseases Now (RDNow) is funded by The Royal Children's Hospital Foundation. 

Available for interview
Associate Professor Sue White
Professor David Thorburn
Case study

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Phone: +61 3 9936 6211 / 0427 836 176