Genetic Diagnosis Breakthrough: Identifying Rare Neurodevelopmental Disorders with a Skin Biopsy
Rare neurodevelopmental disorders can be incredibly challenging to diagnose, often leaving individuals and their families without answers or access to appropriate care. However, researchers at the University of Adelaide have developed a groundbreaking genetic diagnostic method that could change the way these disorders are identified and treated.
Currently, conditions that result from significant disruptions during brain development, such as Rett Syndrome, epilepsy, and Down Syndrome, impact one in 50 Australian children. But beyond these well-known conditions, there are approximately 6000 rare disorders that are often difficult to diagnose due to the lack of specific names and defined symptoms.
The team at the Robinson Research Institute, led by Dr Lachlan Jolly and Professor Jozef Gecz, has pioneered a new approach to genetic diagnosis that involves using a small sample of skin from the upper arm. By transcribing genetic variations into RNA, they can determine if these variations are disease-causing and improve diagnostic accuracy.
These groundbreaking findings, part of the PERSYST Study, have been published in the prestigious American Journal of Human Genetics. Dr Jolly emphasized the importance of genetic diagnosis in providing appropriate care, therapies, and support for individuals with rare disorders.
Traditionally, obtaining RNA from brain tissue was the primary method of studying disease-causing genes. However, this approach was limited by the availability and invasiveness of brain tissue samples. By activating disease genes in skin cells grown in a laboratory setting, researchers can now obtain RNA transcripts without the need for invasive procedures.
This innovative approach has the potential to revolutionize genetic diagnosis for rare neurodevelopmental disorders. Variants in disease-causing genes that were previously inaccessible can now be studied using this non-invasive skin biopsy method. This breakthrough is particularly significant for the 22.2% of individuals with genetic variants of uncertain pathology, who may have been living without a diagnosis and suitable treatment options.
The PERSYST study is a national collaboration involving scientists, clinicians, diagnostic laboratories, and rare disease community groups across Australia. This initiative, which is set to continue until 2027, aims to utilize the new skin-based diagnostic technology to provide answers to individuals living with genetically undiagnosed rare diseases.
“PERSYST is a game-changer in genetic diagnosis, providing crucial evidence to support individuals and families in their diagnostic journeys,” explained Dr Jolly. “By ending the burden of diagnostic uncertainty, we can offer better care, support, and access to precision treatments for those affected by rare neurodevelopmental disorders.”
This groundbreaking research not only expands our understanding of rare genetic disorders but also offers hope to individuals and families facing the challenges of an undiagnosed condition. By utilizing a simple skin biopsy, researchers have unlocked a new pathway to accurate genetic diagnosis and personalized treatment for rare neurodevelopmental disorders.
