Biosketch of the Scientific Director

Constantine A. Stratakis, M.D., D(Med)Sc

Scientific Director Constantine A. Stratakis, MD, D(med)Sci

Dr. Constantine A. Stratakis was named the Scientific Director of the Division of Intramural Research (DIR) of NICHD in August 2011, after serving as the Acting Scientific Director since July 2009. Dr. Stratakis was formally trained as pediatrician and medical geneticist. During the last 20 years, he has made significant contributions to the fields of endocrinology and genetics.

Dr. Stratakis is well known for many discoveries, but he is most famous for the identification and characterization of the genetic causes for various conditions: pituitary tumors and pituitary adenoma and pheochromocytoma/paraganglioma association (3PAs), a form of gigantism that he first described and is known as X-linked acrogigantism (X-LAG), Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), other bilateral adrenocortical hyperplasias (BAHs), and the genetic defects associated with the Carney-Stratakis syndrome (CSS), comprising heritable paragangliomas and gastrointestinal stromal tumors (GIST).

His laboratory has identified the following genes responsible for human diseases: GPR101 (in X-LAG), PRKAR1A, PRKACA, and PRKACB (in CNC, PPNAD, BAH), SDHA, SDHB, SDHC and SDHD for 3PAs, CSS, Carney Triad, and GISTs. Dr. Stratakis' laboratory continues the study of the genetics of a variety of endocrine conditions that predispose to tumors and studies animal models of the identified genes, as well as the molecular signaling pathways involved. For example, Dr. Stratakis and his colleagues followed the PRKAR1A gene discovery in patients with CNC and PPNAD and discovered the cAMP signaling pathway's role in adrenal and other endocrine tumors. Using a combination of genome-wide technology and clever extrapolation of PKA signaling, they also identified mutations in the phosphodiesterase (PDE) genes 11A and 8B (PDE11A, PDE8B) in a variety of tumors. These observations, in turn, gave rise to analyzing the role of the PDEs in tumorigenesis, a previously unsuspected connection. Dr. Stratakis' genetic discoveries have been published in many journals, including a number of articles in Nature Genetics and the New England Journal of Medicine. He has authored more than 500 publications.

Dr. Stratakis' translational and medical investigations carry significant clinical implications. Gene-based testing for CNC, PPNAD, and CSS patients can result in earlier diagnosis, more effective treatment, organ-specific surveillance, and prophylaxis. As part of related investigations on a syndrome that is not related to PPNAD or CNC, but that predisposes one to adrenal and other tumors, he and Dr. Carney described a disorder that bears their names (Carney-Stratakis syndrome). Today, Dr. Stratakis' clinical protocols at the NIH Clinical Research Center offer innovative treatments to patients with endocrine tumors, mainly lesions of the pituitary and adrenal glands, and other endocrine genetic syndromes.

Dr. Stratakis trained first at the Endocrine Unit, University of Athens in the early 1980s, and there he participated in the first efforts to establish congenital hypothyroidism screening in Greece; this work was followed by establishing assays for SHBG, HCG, GH, IGF-I and IGF-II, all of which continued to be used by Greek academic and commercial labs until the mid-1990s. Subsequently, Dr. Stratakis was fortunate to train with some of the best in endocrinology, including: Professor J-P Luton at Hospital Cochin, Paris, France, where he was introduced into the world of Cushing syndrome; Professor X. Bertagna and J. Bertherat and his group, with whom he now collaborates; and eventually, he joined Dr. George P. Chrousos' laboratory at the Developmental Endocrinology Branch (DEB), NICHD, NIH. After completing an internship and residency in pediatrics, and two fellowships in medical genetics and pediatric endocrinology, Dr. Stratakis returned to NICHD to pursue his independent career, where he rose through the ranks to become the director of the Program on Developmental Endocrinology and Genetics (2007-2011). In 2002, he also became the director for the Fellowship Program in Pediatric Endocrinology, a position he held until 2014.

Dr. Stratakis was the first recipient of the Endocrine Society-Pharmacia International Award for Excellence in Published Clinical Research (JCEM 1998;83:1348) in 1999. He has received a number of NIH Merit and other awards, including the Ernst Oppenheimer Award of the Endocrine Society in 2009. As the mentor of a number of trainees from all over the world, he received the 2015 NICHD Mentor Award. Dr. Stratakis has been honored nationally and internationally by invitations from academic centers for visiting professorships from Harvard University, the University of Adelaide, Australia, the Chinese University of Hong Kong, and others. He served on several editorial boards, including a five-year term as the Deputy Editor of the Journal of Clinical Endocrinology and Metabolism (2010-2015), the leading journal in endocrinology. He is currently co-Editor-in-Chief of Hormone & Metabolic Research and President-elect (2018) of the Society for Pediatric Research (SPR).

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