Rare Disease Now (RDNow) is a project funded by the RCH Foundation which aims to establish a pathway for children with a rare disease that remains undiagnosed, even after genomic testing. The project seeks to give these children the best chance of receiving a diagnosis and to access the latest clinical trials and treatments.

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A collaborative study, under the auspices of Melbourne Genomics Health Alliance, published this week has found that genomic testing for patients with suspected genetic kidney disease leads to more definitive diagnosis and has a substantial, quantifiable impact on care.

Lead authors Dr Kushani Jayasinghe and A/Prof Catherine Quinlan investigated the impact of genomic testing for patients with suspected genetic kidney disease over a two-year period (2017-2019).

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An Australian Genomics Health Alliance study led by Associate Professor Zornitza Stark (Consultant Clinical Geneticist) & Dr Sebastian Lunke (Head of Genetics & Genomics) has been published in the latest issue of the Journal of the American Medical Association (JAMA). The study highlights how ultra-rapid genomic testing can transform the diagnosis and treatment of children in intensive care.

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Over $33 million has been provided for genomics research to support cancer and children’s diseases. The grants are the first from the new government funded Genomics Health Futures Mission.

17 projects across Australia have received funding, including two being run by MCRI and VCGS.

Read government Media Release