An international team involving University of Queensland researchers has used advanced genome sequencing to diagnose 30 patients with unresolved rare diseases.
The patients were among 70 people with disorders of the brain’s white matter and were examined using whole exome sequencing (WES) — a method that looks at all the genes in a person’s genetic code at once.
White matter disorders, which affect one in 7000 children born each year, damage the nerves that connect different brain regions to each other and the spinal cord, causing impaired brain function.
The team was led by Children’s National Health System’s Myelin Disorders Program Director Dr Adeline Vanderver, and included Illumina Director of Scientific Research Dr Ryan Taft, and the UQ Institute for Molecular Bioscience’s Dr Cas Simons.
Dr Simons, from the UQ IMB Centre for Rare Diseases Research, said white matter disorders could have a devastating impact on patients and families.
“Access to a timely and accurate diagnosis is critical to inform many healthcare decisions and improve quality of life for patients,” he said