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Overview


Our research focuses on equitable implementation of genomic medicine towards improved health outcomes and health-related quality of life. Via the Neonatal Genomics Program, the Manton Center for Orphan Disease Research, and the Fetal Precision Medicine Program, we uncover novel genetic diagnoses for a wide spectrum of families with rare conditions. We also strive to optimize genomic medicine services for families with rare diseases and ensure that access to such services is equitable and achieves the family's health and quality of life goals.

Our Research

Our mission is to equitably improve outcomes that are meaningful for families with rare disease via innovations in genomic medicine. We use genomic sequencing to identify rare disease diagnoses and implement strategies to improve diagnostic yield, clinical utility, and health-related quality of life.

Research topics include:

  • Fetal neonatal medicine
  • Public health
  • Genetics genomics