Genetics of Endocrine Disorders, An Issue of Endocrinology and Metabolism Clinics of North America, 1e (The Clinics: Internal Medicine)

This issue of Endocrinology and Metabolism Clinics, guest edited by Dr. Constantine A. Stratakis, is devoted to Genetics in Endocrine Disorders. Articles in this issue include: Genetics of Short Stature; Genetics of Diabetes Insipidus; Pituitary Hypoplasia; Pituitary Tumor Genetics and Associated Syndromes; Defects of Thyroid Hormone Synthesis; Molecular Genetics of Thyroid Cancer; Genetics of Hyperparathyroidism Including Parathyroid Cancer; Genetics of Adrenocortical Development and Tumors; Genetics of Congenital Adrenal Hyperplasia; Genetics of Pheochromocytomas and Related Conditions; Genetics of Multiple Endocrine Neoplasia Type 1 and Type 2 Syndromes; Genetics of Hypogonadotrophic Hypogonadism and Kallman Syndrome; Disorders of Sex Development; Genetics of Lipodystrophy; and PTEN-Spectrum Disorders.

Professor Constantine A Stratakis is an internationally known medical geneticist, endocrinologist, translational investigator and executive leader with a unique combination of skills and experience in science, healthcare, clinical trials, molecular research and genetics, policy, government regulations, and patient advocacy. Prof. Stratakis served as the Chief Scientific Officer of ELPEN Pharmaceuticals, in Athens (GR) and directed the efforts to build a new ELPEN Research Institute that is due to open in 2026-27, while he also runs human genetics and precision medicine at IMBB, FORTH, in Heraklion, GR. Most recently he was selected to coordinate the Hellenic Network for Precision Medicine in Molecular Oncology (EDIMO; https://edimo.gr/) and his laboratory (www.digenia.gr) participates in 3 other funded Precision Medicine programs: the 2 networks for Cardiac and Neurodegenerative diseases in Greece and the Health Hub program for the digital transformation of Medicine (2022-26).

His basic training was in medicine (Athens, GR 1989), pediatrics, endocrinology and medical genetics (Paris, France 1988, Georgetown University, Washington DC, USA 1990-1996) and holds a Medical Doctor’s, a Doctorate in Medical Sciences, and two honorary PhD degrees, in addition to being a graduate of the University of Maryland School of Public Policy Executive Leadership program (2012).

As an executive leader, Prof. Stratakis led the National Institutes of Health (NIH/NICHD) genetics and endocrinology programs and the NICHD intramural research program (1,100 employees, $200M/year budget) in the United States, for more than 18 years where he trained more than 200 trainees. He is highly sought as a Mentor, speaker, teacher, a patient advocate, and a trusted and highly respected advisor for a wide-range of issues, across various sectors of the healthcare and innovation in life sciences ecosystem.

As an investigator, Prof. Stratakis has worked on the genetics of solid tumors and has identified a number of predisposing genetic defects, including a disease that bears his name (Carney-Stratakis syndrome). He has authored more than 850 publications and served in major Editorial roles of leading journals. He received the 1999 Award for Excellence in Published Clinical Research and the 2009 Ernst Oppenheimer Award both from the US Endocrine Society, and a number of other honors, including NIH Merit and Director’s Awards; he also has been named Visiting Professor in academic centers around the world. He is the recipient of the 2019 Dale Medal from the British Endocrine Society and received the 2018 International Award of the European Society of Pediatric Endocrinology (ESPE). He was named honorary member of the Hellenic Society of Cardiology (2017) and the Hellenic Endocrine Society (2019) for his work on the genetics of hypertension and endocrine diseases, respectively. He holds two honorary doctoral degrees from the Universities of Liege, Belgium (2013) and Athens, Greece (2017).

Prof. Stratakis served as the 2018-2019 President of the Society of Pediatric Research (SPR) in the US. In addition to the SPR, he is an elected member of American Pediatric Society (APS), the American Society for Clinical Investigation (ASCI) and the Association of American Physicians (AAP). Dr. Stratakis most recently was instrumental in the launching of the new NICHD Strategic Plan (2020-2024) that emphasizes Precision Medicine, and the use of large data in predictive healthcare.

Prof. Stratakis is dedicated to advances in Science, and he is an exquisite teacher and a marvelous communicator with many interviews in the lay press supporting Science. He is also a tireless advocate of early-stage investigators, diversity and equity.

Finally, Prof. Stratakis is a constant innovator with 4 patents and already involved in start-ups: ASTREA Health, HealthspanDigital. Sterotherapeutics, are three companies that he is involved or founded, all in the last 3 years (2022-2025).