GREG COOPER
disease THROUGH THE GENOME
GENOME SEQUENCING IN CRITICALLY ILL NEWBORNS
280 genes submitted to GeneMatcher® 25 collaborative publications IN THE LAB linked dozens of genes to developmental disorders. ZMYM3 is a new NDD-associated gene that the Cooper lab discovered
SouthSeq is a National Institutes of Health (NIH) funded clinical research study led by Cooper and members of his lab. The study aimed to use genome sequencing to identify genetic variants that may contribute to the conditions of sick newborns, with the ultimate goal of providing diag- noses for these families. Five clinical sites collaborated with HudsonAlpha on this study, including the University of Alabama at Birmingham (UAB) School of Medicine, Univer- sity of Mississippi Medical Center, University of Louisville, Woman’s Hospital in Baton Rouge, and Children’s Hospital of New Orleans. The SouthSeq team targeted enrollment of a diverse population of babies representing racial and ethnic minori- ties as well as those from rural, medically underserved areas. The study enrolled 640 babies across the five clinical sites. Results from a completed analysis of the first 367 babies enrolled were published in the journal Genetics in Medicine , the official journal of the American College of Medical Genetics and Genomics (ACMG) 1 . Of the 367 babies that received genome sequencing through SouthSeq, 30 percent received a genetic diagno- sis. An additional 14 percent received results of uncertain significance, meaning a genetic variant was identified, but there is not enough current knowledge to definitively link it to the disease. The research team also found that newborns exhibiting abnormal craniofacial,
in 2022 2 .
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RESEARCH REPORT
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