معرفی
Michele Spencer-Manzon, MD, is an Associate Professor of Genetics and Pediatrics at Yale School of Medicine, serving as Associate Chief of Clinical Genetics Operations. She specializes in clinical genetics, focusing on genetic disorders, inborn errors of metabolism, and pediatric genomics. Her work involves diagnosing rare genetic conditions in infants and children, with a particular emphasis on molecular genetics and genetic testing innovations.
Education: MD from University of Massachusetts (2004), followed by residencies and fellowships at Duke University Hospital (2007–2012). She is board-certified in biochemical genetics and pediatrics.
Research Interests
- Diagnosis and treatment of rare genetic disorders
- Genomic medicine in pediatric populations
- Molecular mechanisms of metabolic genetic diseases
- Improving diagnostic accuracy through genomic analysis
Research Trends in Articles
Her recent publications emphasize advancements in genomic diagnostics (e.g., homozygosity mapping, variant analysis) and clinical applications (e.g., myo-inositol therapies for GPI deficiencies). Studies highlight genetic modifiers in mosaic disorders and prenatal genetic evaluation strategies.
Awards & Recognition
- Student Travel Award (2011)
- Glasgow-Rubin Achievement Citation (2004)
- Alpha Omega Alpha (2003)
Advising & Grants
Leads the Pediatric Genomics Discovery Program (PGDP) at Yale, focusing on genomic discovery for undiagnosed pediatric diseases. Collaborates with interdisciplinary teams to advance translational research and clinical care.
Labs/Teams
Affiliated with the Yale Center for Genomic Health and the Pediatric Genomics Discovery Program, integrating clinical care with cutting-edge genomic research.
