Researchers from the University of Adelaide have developed a non-invasive genetic diagnostic method that can identify rare neurodevelopmental disorders using a small skin sample taken from the upper arm.
There are roughly 6000 rare disorders, many of which lack specific names and are instead characterized by their symptoms or the genetic changes that lead to them.
A research team at the Robinson Research Institute, guided by Dr. Lachlan Jolly, who heads the Neurobiology Research Group at the University of Adelaide’s School of Biomedicine, along with Professor Jozef Gecz from the School of Medicine’s Neurogenetics program, has created a technique to convert genetic variations into RNA. This advancement enhances the ability to determine whether these variations are linked to diseases, thus aiding in more accurate genetic diagnostics.
The results of this research, part of the PERSYST Study, have been published in the American Journal of Human Genetics.
“Obtaining a genetic diagnosis is essential for receiving appropriate care, therapies, participating in clinical trials, planning for families, and importantly, finding a supportive community,” explained Dr. Jolly.
“We’ve managed to activate the genes associated with brain diseases in skin cells derived from a biopsy, cultivated in the lab, which allowed us to acquire the gene’s RNA transcript. This was previously only achievable through acquiring brain tissue from patients, which is rarely accessible and often not recommended.
“By activating these disease-related genes in skin cells, we can conduct functional RNA studies to understand the pathology associated with specific genetic variants. Individuals often remain undiagnosed because obtaining the gene RNA through invasive methods is not feasible.”
“Changes in these particular genes account for 22.2 percent of all variants that lack a clear pathological explanation, which means that hundreds of thousands of people around the world are still living without a diagnosis, and this figure is on the rise.”
This innovative strategy is central to the PERSYST study, which is a national collaboration involving scientists, healthcare professionals, diagnostic laboratories, and groups focused on rare diseases across Australia. The PERSYST study is expected to continue until 2027, utilizing this new skin-based diagnostic technology along with a nationwide recruitment initiative for individuals with genetically undiagnosed rare diseases.
“PERSYST aims to provide crucial evidence to facilitate genetic diagnoses for Australians and their families, alleviating their diagnostic challenges and opening doors to improved care, support, and precision therapies,” added Dr. Jolly.
