Stephanie Sherman

Stephanie Sherman is a Professor in the Department of Epidemiology at Emory University. Her research focuses on genetic epidemiology, particularly studying Down syndrome-associated conditions such as congenital heart defects, acute lymphoblastic leukemia, and comorbidities in individuals with genetic disorders. She has conducted extensive studies on fragile X syndrome and its associated conditions, including FXPOI (fragile X-associated primary ovarian insufficiency) and FXTAS (fragile X-associated tremor/ataxia syndrome). Her work integrates genomic, epigenomic, and epidemiological approaches to understand disease mechanisms and improve clinical outcomes.

Key areas of interest include:

• Genetic modifiers of Down syndrome and fragile X-related disorders
• Impact of genetic variants on disease risk and progression
• Public health implications of genetic disorders during pandemics (e.g., 2020–2021 COVID-19 studies)
• Clinical registries and databases for rare genetic conditions

Dr. Sherman has collaborated internationally on initiatives such as the Trisomy 21 Research Society and the FMR1 Premutation Registry. Her recent work emphasizes translational research to bridge basic genetic findings with clinical applications, including therapy development for Down syndrome and fragile X-associated conditions.