Scientists at the HudsonAlpha Institute for Biotechnology have connected developmental delay and intellectual disability (DD/ID) to variations in the BRSK2 gene with the help of a social media platform used by geneticists all over the world.
Researchers in Greg Cooper’s lab recently published a paper in the American Journal of Human Genetics associating genetic variation in a gene called BRSK2 with neurodevelopmental disorders. They put together enough cases to make the link by assembling a cohort of affected individuals through a website called GeneMatcher.
The Cooper Lab identified children with variations in BRSK2, all with developmental delay or intellectual disability, in the course of a Clinical Sequencing Exploratory Research (CSER) Project. HudsonAlpha’s CSER project is aimed at identifying the genetic causes of undiagnosed conditions by using genome sequencing, and is funded by the National Institutes of Health.
Through careful assessment of the CSER cases, researchers honed in on disruptions to the BRSK2 gene as a potential cause, but they wanted more instances to compare. That’s when they turned to GeneMatcher, a website from the Baylor-Hopkins Center for Mendelian Genomics, which allows researchers to input genes of interest and match with other scientists all over the world. Through the site, five more individuals with variations in the gene were identified and compared to one another. All nine individuals presented with delays, including speech and motor function, and many had diagnoses of autism, behavioral problems and other issues.
Statistical and biological analysis of the mutations in BRSK2, which contributes to brain development and function, confirmed the association of the gene with DD/ID.
“One main challenge for rare disease diagnosis is obvious,” said Greg Cooper, Ph.D., faculty investigator. “If the disease is rare enough, it’s hard to put together the number of cases we need to draw our most important conclusions. Being able to compare notes and share samples with researchers across the planet is an enormous asset. Our tools for collaboration give the HudsonAlpha Institute for Biotechnology a global reach — a way to solve medical mysteries all over the world.”
This CSER project was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number UM1HG007301. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.