HARNESSING GENOMIC DATA TO BETTER DIAGNOSE AND TREAT RARE NEURODEVELOPMENTAL DISEASES E very year, millions of children are born with neurodevelopmental disorders that can affect their communication, learn- ing, behavior, and social interactions. These developmental delays can lead to lifelong challenges for both the child and their families. Compounding these challenges is the fact that many of these disorders are hard to diagnose, leaving children and their families searching for answers. HudsonAlpha Faculty Investigator Greg Cooper, PhD , and his lab are experts at using genome sequencing to revolutionize the diagnosis of rare neurodevelopmental disorders while also identifying new genetic contributors to these disorders.
Thanks to advances in genomic technology, it is now clear that many neurodevelopmental disorders are caused by changes in an individual’s genome that interfere with critical developmental processes. The Cooper and Kodani (p. 20) labs at HudsonAlpha focus their research on better understanding the genetic basis of neurodevelopmental disorders. Their goal is to help families receive a faster diagnosis, support from the moment of diagnosis, and the knowledge and tools they need to navigate their health journey with greater confidence. ENDING THE DIAGNOSTIC ODYSSEY ONE GENOME AT A TIME Geneticists have identified over 1,500 genes associated with neurodevelopmental disorders. Although this helps about one-third of patients with neurodevelopmental diseases receive a genetic diagnosis, many patients remain without an answer. There are likely still thousands of undiscovered ge- netic contributors to neurodevelopmental diseases.
Since 2013, Cooper and his lab have sequenced the genomes of nearly 2,000 children, providing over 40 percent with a genetic finding that may be relevant to their symptoms.
Pictured above: Susan Hiatt, PhD and Donald Latner, PhD, reviewing long-read sequencing data to find genetic variants that could be responsible for patient symptoms.
HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY
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