Frances High, M.D., Ph.D.
Clinicn Investigator Asst Prf Genetics Program, Mass General Research Institute |
Assistant Professor of Pediatrics Harvard Medical School |
Assistant Pediatrician Pediatrics-Genetics, Massachusetts General Hospital |
M.D.; Ph.D. University of Pennsylvania 2009 |
PhD University of Pennsylvania 2007 |
Research Interests
Research Narrative
Understanding the genetic basis of congenital diaphragmatic hernia (CDH).
I am serving as the lead clinical geneticist for one of the largest and longest-running studies on the genetics of CDH, a common birth defect with high morbidity and mortality. This work contributes significantly to our understanding of the genetics of CDH, identifying critical genes and pathways with sequence variations and copy number variations, and correlating with disease phenotype and severity. Our long-term goal is to harness our understanding of the genetic basis of CDH to improve diagnostic, prognostic, and therapeutic options for these patients.
Research website
Publications
Clinical Profile
fhigh@partners.org |
6177261561 |
Simches Building 185 Cambridge Street Boston, MA 02114 |