Wendy Chung

Biography
Wendy Chung is a leading figure in rare disease genomics and precision pediatrics. She has identified the genetic basis for more than 60 novel human Mendelian conditions and has helped define how genomic discovery can be translated into clinical care for children with rare and complex disorders. Her work has also been central to the implementation of genomic medicine at scale, including major efforts in autism and rare neurogenetic disease through SPARK and Simons Searchlight. More recently, she has helped lead the field toward genomic newborn screening through GUARDIAN, a large prospective study evaluating genome sequencing for early detection of rare, treatable conditions. Chung has also advanced a model for how genomic diagnosis can lead directly to personalized treatment, including work on antisense oligonucleotide therapy for KIF1A-associated neurological disorder. A member of the National Academy of Medicine, she continues to shape the future of rare disease diagnosis, newborn screening, and genomic implementation.

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Talk
GUARDIAN genomic newborn screening
GUARDIAN is a pilot study that has demonstrated the feasibility and acceptability of genomic newborn screening within the public health setting. Screening over 25,000 newborns has diagnosed ~ 2.5% of newborns with treatable conditions.