THE UNSOLVABLE
Finding out your child is suffering from a disease that can’t be named is devastating. Roughly 2.8 million children struggle with rare genetic disorders that lead to physical, mental, or behavioral disabilities or delays, and the road to diagnosis can be long and winding. For some families, it can take years before receiving answers that shed light on what their child is going through. Greg Cooper, PhD, Faculty Investigator, and his team are working to improve diagnostics for rare disease, especially those related to childhood genetic disorders. Using data from genome sequencing, Cooper’s lab develops computational tools and algorithms to identify changes in the genome that are related to a child’s symptoms. His lab has sequenced over 1,900 children whose families are in search of a diagnosis.
Because the body of knowledge on genetic information is always growing, Dr. Cooper’s team uses cutting-edge computational technology to reanalyze patients whose genome sequencing did not originally yield results.
Through these reanalyses, Dr. Cooper’s team has discovered diagnostically relevant information in a growing number of patients, equipping them with information that impacts their care plan and empowering them to make more personalized healthcare decisions. A FAR-REACHING CLINICAL IMPACT Cooper’s lab also contributes to a global body of research to uncover the genetic culprits behind neurodevelopmental disorders. Over the last year, the team discovered a previously undiscovered genetic variation contributing to Dravet syndrome and related conditions that cause seizures. This discover by Dr. Stephanie Felker, a member of the Cooper Lab, will benefit the patients whose genomes are sequenced by Cooper’s lab, as well as patients at the Smith Family Clinic for Genomic Medicine and in clinical settings around the world. My lab’s work pairs genomic sequencing technology with computational tools and data sharing to identify new neurodevelop- mental disease-associated genes.The aim is to move clinical genetics forward and eliminate the long diagnostic odysseys that patients with neurodevelopmental diseases often have to go through. Access to personalized genetic information can also help clinicians form more effective treatment plans, and connect families to support groups and others affected by the same condition. GREG Cooper, PhD Faculty investigator
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