Researchers at the University of Adelaide have uncovered a diagnostic genetic method that can potentially help identify rare neuro-developmental disorders by taking a sample, from the skin of the upper arm. This method transcribes the genetic variations in RNA, determining which ones are disease causing and can improve on genetic diagnosis. The findings that are part of the PERSYST study are published in the American Journal of Human Genetics. The team was led by Dr Lachlan Jolly, Head of the University of Adelaide, School of Biomedicine, Neurobiology Research Group, and Prof Jozef Gecz, the Head of the School of Medicine, Neurogenetics Program.
The PERSYST study is a national collaboration consisting of scientists, clinicians, diagnostic laboratories and rare disease groups based in Australia. The study is on till 2027. It has a national recruitment program for the subset of patients who are suffering from undiagnosed rare genetic diseases. As a developing research group, they aim to provide better care, support and precise treatments. Dr Jolly explains, “A genetic diagnosis is a prerequisite to appropriate care, therapies, clinical trials, family planning and importantly, a community of belonging and support. What we’ve been able to do is activate the expression of brain disease genes derived from a patient skin biopsy grown in the laboratory to obtain the genes RNA transcript; previously this would have only been possible through a sample of patient brain tissue, which is rarely available or advisable.”
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