Speaker Profile
PMWC PIONEER AWARD
Pioneered rare disease genomics and newborn sequencing for earlier diagnosis
M.D., Ph.D., Chief, Department of Pediatrics, Harvard
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.
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.
Session Abstract – PMWC 2027 Silicon Valley
Track Chair:
Wendy Chung, Boston Children's / Harvard
PMWC Award Ceremony
• Wendy Chung, Boston Children's / Harvard (Pioneer)
• Eric Lander, Broad Institute (Pioneer)
Featured Speakers
• Wendy Chung, Boston Children's / Harvard
• Eric Lander, Broad Institute
• Zhanzhi (Mike) Hu, Project GUARDIAN / Columbia
• Tippi MacKenzie, UCSF
• Ryan Taft, Genetic Alliance
• Heidi Cope, RTI International
• Michele Caggana, NY State DOH Wadsworth Center
• Elad Ziv, UCSF
• Scott Grosse, University of Minnesota
• Mike Talkowski, Mass General / Harvard
• F. Sessions Cole, WashU
• Lee Hood, Phenome Health / ISB
• Trey Ideker, UC San Diego
• Ralph Snyderman, Duke
• Craig Mundie, Mundie & Associates
• George Church, Harvard
Beyond the Exome: Solving Undiagnosed Disease
The next layer of rare-disease diagnosis beyond standard sequencing.
Population Genomic Screening
From newborn sequencing to implementation, evidence, economics, and equity.
Structural Variants & Long Reads
Solving cases missed by conventional sequencing.
Launching the Human Phenome Initiative
From genome to phenome as a global health infrastructure challenge.
Data-Driven Health
AI, longitudinal data, and personalized clinical medicine.
Engineering the Future of Health
Genomes, cells, and engineering biology as precision medicine moves upstream.
PMWC Hall of Impact
Previous Speakers Include
Nobel laureates, technology founders, regulators, CEOs and scientific pioneers who have taken the PMWC stage.
