Stephanie Seminara, MD

Professor of Medicine, Harvard Medical School

Chief of the Reproductive Endocrine Unit

Massachusetts General Hospital

Dr. Seminara is a physician-scientist whose career focus is the genetic regulation of reproduction. She holds BA and MD degrees from Harvard University and did her medical residency and endocrinology training at Massachusetts General Hospital. She joined the faculty of the Reproductive Endocrine Unit of the MGH in 1997, and in 2017, became its Chief. She currently serves as the Director of a NIH-funded National Center for Translational Research in Reproduction and Infertility that seeks to elucidate the genetic and phenomic architecture of infertility, extend pathomechanistic understanding, and develop novel diagnostic/prognostic/therapeutic tools for this condition.

Dr. Seminara has pioneered the use of genetics and genomics to understand fundamental mechanisms underlying pubertal delay, hypogonadism and infertility. In addition to her discovery that kisspeptin—a previously unknown hormone--was a gatekeeper for sexual maturation, she has developed a bench to bedside translational program in kisspeptin biology.

Dr. Seminara’s application of genetic technologies led to her receive the Presidential Early Career Award for Scientists and Engineers, the highest honor bestowed by the U.S. government on young scientists and engineers. She is also the recipient of a NIH MERIT (Method to Extend Research in Time) award.

Publications

Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH. The GPR54 gene as a regulator of puberty. N Engl J Med. 2003;349 (17):1614-27.

Chan YM, de Guillebon A, Lang-Mauritano M, Plummer L, Cerrato F, Tsiaris S, Gaspert A, Lavoie H, Wu CH, Crowley WF, Amory JK, Pitteloud N, Seminara SB. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proceedings of the National Academy of Sciences USA. 2009;106(28):11703-8.

Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med. 2013 May 23;368(21):1992-2003.

Chan YM, Butler JP, Pinnell NE, Pralong FP, Crowley WF Jr, Ren C, Chan KK, Seminara SB. Kisspeptin resets the hypothalamic GnRH clock in men. J Clin Endocrinol Metab. 2011;96(6):E908-15.

Chan YM, Lippincott MF, Kusa TO, Seminara SB. Divergent responses to kisspeptin in children with delayed puberty. JCI Insight. 2018 Apr 19;3(8). pii: 99109

Chan YM, Lippincott MF, Sales Barroso P, Alleyn C, Brodsky J, Granados H, Roberts SA, Sandler C, Srivatsa A, Seminara SB. Using Kisspeptin to Predict Pubertal Outcomes for Youth with Pubertal Delay. JCEM 2020 Aug 1;105(8):e2717-25.