David Rimoin

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David Lawrence Rimoin (born November 9, 1936 in Montreal , † May 27, 2012 in Los Angeles ) was a Canadian doctor and geneticist . He was one of the leading scientists in the field of genetic short stature and skeletal dysplasia .

Life

David Rimoin earned a bachelor's degree from McGill University in Montreal in 1957 and graduated in 1961 with degrees in medicine and a master's in genetics. By 1963, he was assistant physician at the Royal Victoria Hospital in his hometown and then moved at the invitation of the geneticist Victor A. McKusick at the Johns Hopkins University , also as an assistant where he was clinically active until 1964 and 1967 with the work Genetic Disorders of the Endocrine Glands one Ph.D. in genetics. He then served as Assistant Professor of Pediatrics and Director of the Clinic for Medical Genetics at Washington University in St. Louis . In 1970 Rimoin moved to the University of California, Los Angeles (UCLA) as Associate Professor of Pediatrics and Deputy Director of the Clinical Research Center . From 1970 to 1976, he directed the Medical Genetics Department at Harbor-UCLA Medical Center. He became a professor in 1973 and served as vice chairman of the Department of Pediatrics at UCLA School of Medicine from 1986 to 2004. From 1986 to 2004 Rimoin also headed the Medical Genetics-Birth Defects Center at the Cedars-Sinai Medical Center . From 2001 he was Professor of Pediatrics, Medicine and Human Genetics at the David Geffen School of Medicine at UCLA . In 2004 he became director of the Institute for Medical Genetics at Cedars-Sinai Medical Center.

Rimoin was married to Ann Piilani Garber and had two daughters and a son.

Act

Rimoin's main areas of research were short stature , skeletal dysplasia and hereditary connective tissue diseases. Together with the population geneticist Luigi Luca Cavalli-Sforza , he studied the hormonal balance of pygmies in Central Africa in the 1960s . In 1970 he founded the International Skeletal Dysplasia Registry (ISDR) together with Ralph Lachman and Marianee Priore . Rimoin was involved in describing the genetic defects of about 45 different skeletal dysplasias and described over 25 genetically determined syndromes.

Rimoin's early research was devoted to the genetics of diabetes mellitus . He was one of the scientists who questioned the homogeneity of diabetes mellitus in the 1960s and rather assumed a group of metabolic diseases.

The screening test for Tay-Sachs syndrome , developed by his colleague Michael Kaback , was introduced by Kaback and Rimoin as a comprehensive screening test for newborns in California.

Rimoin has co-authored over 400 scientific publications and edited and authored various textbooks, including the newly published Emery and Rimoin's Principles and Practice of Medical Genetics . He was also a member of numerous specialist societies, magazine editorial offices and scientific committees.

Publications (selection)

  • D. Rimoin, R. Schimke: Genetic Disorders of the Endocrine Glands. Mosby, 1971, ISBN 0-8016-4123-3 .
  • I. Rotter, M. Samloff, D. Rimoin (Eds.): The Genetics and Heterogeneity of Common Gastrointestinal Disorders. Academic Press, New York 1980, ISBN 0-12-598760-9 .
  • A. Emery, D. Rimoin (Eds.): Emery and Rimoin's Principles and Practice of Medical Genetics. Churchill Livingstone, New York 1983. (5th edition 2006, ISBN 978-0-443-06870-6 .)
  • A. Orno, Z. Borochowitz, R. Lachman, D. Rimoin: Atlas of Fetal Skeletal Radiology. Year Book Medical Publishers, Chicago 1988, ISBN 0-8151-6544-7 .

literature

Web links

Individual evidence

  1. ^ A b Oral History of Human Genetics Collection: Tabular curriculum vitae David L. Rimoin, MD, Ph.D. (PDF file; 233 kB)
  2. ↑ Betty M. Adelson: Dwarfism: Medical and Psychosocial Aspects of Profound Short Stature. Johns Hopkins University Press, 2005, ISBN 0-8018-8122-6 , pp. 50-54.
  3. ^ M. Kaback: 2006 ASHG Leadership Award. Introductory speech for David L. Rimoin. In: American Journal of Human Genetics . Volume 81, Number 4, October 2007, pp. 668-669, ISSN  0002-9297 . doi : 10.1086 / 521410 . PMID 20529618 . PMC 2227917 (free full text).
  4. ↑ The Human Variome Project: David Rimoin .
  5. ↑ Denise Grady: David L. Rimoin, Geneticist and Expert on Dwarfism, Dies at 75. In: The New York Times . , June 8, 2012.
  6. ↑ Thomas H. Maugh II: Dr. David L. Rimoin dies at 75; Cedars-Sinai geneticist . In: The Los Angeles Times . May 30, 2012.
  7. ↑ List of memberships and awards in: Oral History of Human Genetics Collection: Tabular curriculum vitae David L. Rimoin, MD, Ph.D. (PDF file; 233 kB)
  8. ↑ Bibliography in Oral History of Human Genetics Collection: Tabular curriculum vitae David L. Rimoin, MD, Ph.D. (PDF file; 233 kB)
personal data
SURNAME Rimoin, David
ALTERNATIVE NAMES Rimoin, David Lawrence (full name)
BRIEF DESCRIPTION Canadian doctor and geneticist
DATE OF BIRTH November 9, 1936
PLACE OF BIRTH Montreal
DATE OF DEATH May 27, 2012
Place of death los Angeles