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Rare Disease Innovation & Partnership Summit
March 21-23, 2023
Delivered as a Hybrid EventPhiladelphia Marriott Downtown

Amy Brower
Associate Project Director and Co-Principal Investigator at American College of Medical Genetics and Genomics

Profile

Dr. Brower is a medical geneticist at the American College of Medical Genetics and Genomics in Bethesda, MD and is the Co-Principal Investigator of the Newborn Screening Translational Research Network (NBSTRN) as part of Eunice Kennedy Shriver National Institute of Child Health and Human Development’s (NICHD) Hunter Kelly Newborn Screening Research Program. Dr. Brower directs a team that develops informatics platforms, resources and tools to collect, analyze, visualize and share longitudinal clinical and genomic research data to better understand genetic disease across the lifespan. The NBSTRN collaborates with national research projects working to discover new ways to detect and treat diseases affecting newborns and young children, including a five-year collaborative effort to understand the benefits of sequencing the genome of newborns, a two-year pilot of Duchenne Muscular Dystrophy to assess the benefit of early identification and treatment through newborn screening, and the creation and use of common data elements with the National Library of Medicine to enable the aggregation of diverse data sets and registries. Amy has a background in medical genetics, genomics, informatics, FDA submissions, newborn screening, translational research, molecular diagnostics and bioinformatics. She was a member of the Human Genome Project and International HapMap Project and developed molecular diagnostic and informatics platforms over a decade of work in the device industry. Dr. Brower serves on several national and foundation advisory boards and was an inaugural member of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Amy received her doctorate degree in Medical Genetics at the University of Nebraska Medical Center. Amy is the parent of a son with Severe Combined Immunodeficiency.

Agenda Sessions

  • Modernizing the System to Sustain Newborn Screening

    10:05am