Genetic Diagnosis of Endocrine Disorders (ePub)

Dr. Roy Weiss joined the University of Miami Leonard M. Miller School of Medicine as Chairman and the Kathleen and Stanley Glaser Distinguished Chair in Medicine in June 2014. He is also the Rabbi Morris I. Esformes Professor Emeritus at the University of Chicago. Dr. Weiss is an expert in diseases of the thyroid and has described several genetic diseases of the thyroid along with Dr. Samuel Refetoff. Together, they have one of the largest referral centers for genetic thyroid disease in the world. His research centers on the mechanisms of thyroid hormone action at the molecular, physiological, and psychological levels. Dr. Weiss has examined the molecular basis for the syndrome of resistance to thyroid hormone (RTH) as well as other diseases of thyroid hormone action. He has published over 175 papers. He is a fellow in the American College of Physicians, The American College of Endocrinology, and the American Academy of Pediatrics. His research has been supported by the NIH and has received numerous teaching awards. He is the current President of the Central Society for Clinical and Translational Research.

Samuel Refetoff is known for his discovery (1967) of resistance to thyroid hormone (Refetoff Syndrome) and elucidation of its genetic and molecular basis (1989/92). Devoted to the study of inherited thyroid disorders, his laboratory was first to identify mutations in: serum thyroid hormone transport proteins [TBG (1989) and albumin (1994)]; the TSH receptor producing resistance to TSH (1995); and two syndromic thyroid defects combining neuropsychological and thyroid abnormalities caused by mutations in the TTF1 (2002) and the MCT8 (2004) genes. In 2005 his laboratory identified a defect of TH metabolism caused by mutations in the SBP2 gene, which is involved in the synthesis of selenoproteins. A graduate of McGill University, Dr. Refetoff is professor of medicine, pediatrics and genetics at the University of Chicago. He is author of over 500 publications and

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"In the era of molecular medicine, understanding the genetic basis of disease is at the core. Nowhere is this more applicable than in endocrinology, where the genetic basis of disease underpins its research, practice, and therapy. This timely book brings together an international group of outstanding experts to discuss endocrine genetics, its importance, how to apply this knowledge and where to obtain the genetic tests. Chapters are richly illustrated, linking the physiology and presentation to the specific genetic or molecular defect. Genetic Diagnosis of Endocrine Disorders is a must for the bookshelf of endocrinologists and their trainees." --Mark A. Sperling, M.D., Professor of Pediatrics, Division of Endocrinology, Diabetes and Metabolism, Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

"Genetic Diagnosis of Endocrine Disorders is clearly written and contains sufficient and accurate information about genetic endocrine disorders. Specifically this book identifies the priority of genes that should be analyzedwhen doctors have patients with possible genetic endocrine diseases. As a doctor involved in basic and clinical thyroid research, Genetic Diagnosis of Endocrine Disorders is the book that I have been waiting for." --Yoshiharu Murata, M.D. Ph. D., Professor, Department of Genetics, Division of Stress Adaptation and Protection, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan

"This timely textbook has been written by the top scientists in their specific fields, with a well integrated series of chapters that cover all aspects of genetic disorders of the endocrine glands. Many schematic presentations of biochemical pathways and proposed genetic screening algorithms render the book not only very interesting, but also very useful in the daily management of patients. Readers will learn how to interpret the results of specific tests, where to send the DNA