Neurodevelopmental diseases
LIFE-CHANGING ANSWERS Roughly 1-3% percent of children around the world face neurodevelopmental disorders. Ranging from mild impairments to severe disabilities that require lifelong care, these conditions can be devastating for families as they struggle with the uncertainty of their child’s future. At HudsonAlpha, Faculty Investigators Greg Cooper, PhD , and Andrew Kodani, PhD , are working to uncover the genetic mechanisms behind these complex diseases. By using genomics, our researchers close the loop between diagnosis and treatment, providing children with more accurate diagnoses and improving quality of life through Dr. Cooper’s team uses computational tools to analyze genome sequencing data and identify genetic variations linked to a child’s symptoms. These findings can help a child’s care team identify more effective treatment plans, help families connect with support groups and other families with the same or similar conditions, obtain better support from insurance or social services, and participate in clinical trials. Over 2,000 children have been sequenced by Dr. Cooper’s lab, and over 40 percent of these had a genetic finding that may be relevant to their symptoms. the identification of therapeutic pathways. HOW GENETIC DISCOVERY LEADS TO DIAGNOSIS
Long-read genome sequencing is a newer tool being leveraged by Dr. Cooper’s lab to provide higher-quality sequencing information. By using long-read sequencing as a front-line method for sequencing, Dr. Cooper can uncover variations linked to disease in children’s genomes that may not be visible through other forms of sequencing. Early studies on long-read sequencing show 5-10 percent of undiagnosed children have relevant genetic findings that can only be seen by long-read sequencing. As the technology matures, this percentage is likely to grow. DIAGNOSIS RATE 2000+ CHILDREN SEQUENCED WITH NEARLY 40%
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THE PROMISE OF LONG-READ SEQUENCING FOR IDENTIFYING DISEASE-ASSOCIATED GENETIC VARIATION IS EXCITING. MY TEAM AND I UNDERSTAND HOW LIFE-CHANGING A GENETIC DIAGNOSIS CAN BE, AND WE ARE MOTIVATED EVERY DAY TO COME UP WITH WAYS TO UNCOVER NEW AND PREVIOUSLY HIDDEN RESULTS THAT MIGHT BE INFORMATIVE. THROUGH THIS WORK, WE AIM TO IMPROVE CLINICAL GENETICS TO REDUCE THE UNCERTAINTIES FACED BY MANY FAMILIES WHO STRUGGLE WITH RARE GENETIC DISORDERS.
GREG COOPER, PHD FACULTY INVESTIGATOR
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