Sarah E. Sheppard

Sarah E. Sheppard, M.D., Ph.D., M.S.T.R., is a Physician Scientist at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH). She leads the Unit on Vascular Malformations, focusing on translational research into lymphatic and vascular anomalies. Her work integrates clinical investigation with molecular and genetic research to advance diagnosis and therapy for rare disorders.

Dr. Sheppard’s research centers on central conducting lymphatic anomaly (CCLA), genetic skin disorders (e.g., epidermal nevus and Wiedemann-Steiner syndromes), and somatic mosaicism in vascular malformations. She utilizes zebrafish and organoid models to study disease mechanisms and test therapies, particularly MEK inhibitors for KRAS-related lymphatic disorders. Her clinical research includes natural history studies to improve diagnostic precision and clinical trial design. She has contributed significantly to understanding the genetic etiologies of CCLA and genotype-phenotype correlations.

Her recent publications highlight trends in genomic medicine, targeted therapy, and multidisciplinary care for rare diseases. She frequently publishes in high-impact journals such as Nature Medicine, Science Translational Medicine, and The Journal of Clinical Investigation, with a focus on molecular diagnostics, translational models, and clinical phenotyping.

Dr. Sheppard has mentored numerous trainees and collaborators, though specific advisees are not listed. She participates in clinical and research grants related to rare diseases and vascular anomalies. Her work is supported by the NIH Intramural Research Program.

She is involved in multidisciplinary teams and leads a research unit focused on vascular malformations. Her lab conducts both wet-lab and clinical investigations, bridging basic science with patient care. She also contributes to national and international collaborations in genetics and rare diseases.