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Rare Disease

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Rare disease and children

At least one in 12 babies is born with a rare disease.

There are more than 6000 known rare diseases and 75 per cent affect children. The causes of many of these diseases remain unexplained — 30 per cent of affected children will die before they are 5. 

Despite the progress in diagnosis of rare diseases, and in genetic and genomic research, many Australian families still do not have access to genomic testing. When families do get a diagnosis, many rare diseases have no treatment options.

Interventions that improve outcomes for children with genetic rare diseases require early, rapid and accurate genetic diagnosis. 

Rapid genetic diagnosis provides benefits to patients and families, and economic benefits to the health care system. 

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

Current mission

An MCRI-led rare diseases program that facilitates:

discovery of novel disease genes, mechanisms and treatments
engagement with clinicians, researchers and consumers
translation of research via a streamlined system and infrastructure
equitable access to services, treatment and care for all those with rare disease.

Vision

For all people living with a rare, indeterminate disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.

MCRI's Rare disease flagship

MCRI has made over 100 genetic discoveries, led the development of national and international genomic alliances, houses a purpose-built genetics service and is home to Australia’s leading paediatric trials centre. 

Our Campus partner The Royal Children’s Hospital and MCRI’s Victorian Clinical Genetics Services see over 5000 patients and make more than 250 genomic diagnoses of rare diseases every year. 

MCRI can now further understand the mechanisms that cause rare disease. Critically, MCRI has the capacity to develop novel treatment options and personalised care for those with rare disease.

MCRI’s Rare Disease flagship is a strategic, collaborative program uniting clinicians, biologists and bioinformaticians to tackle unanswered and important issues for those affected by rare disease. 

The MCRI Rare Disease flagship can accelerate our understanding of the causes of each and every rare disease and develop new interventions. Ultimately, it can find the prevention strategies that are so desperately needed. 

Understanding causes and developing new interventions will not only improve children’s lives, but provide the evidence needed for policy change so all Australian families can have access to rapid and accurate genomic testing.

Rare Diseases Now

Rare Diseases Now (RDNow) is an exciting new initiative to deliver genomic diagnoses and precise, personalised care to children at The Royal Children’s Hospital (RCH). Drawing on the research and clinical expertise at the Murdoch Children's Research Institute and Victorian Clinical Genetics Services, RDNow will establish a pathway for children who remain undiagnosed after a genomic test such as exome sequencing. This will give them the best chance of receiving a diagnosis and to access the latest clinical trials and treatments. Funded by the RCH Foundation, RDNow will provide opportunities for families to participate in studies that will increase our ability to provide families with great care and support, and enhance our clinical and scientific knowledge of rare conditions. Children who are patients of RCH and have undergone a genomic test but remain undiagnosed, can contact their RCH doctor or genetic counsellor to discuss eligibility for involvement with RDNow.