Personal journeys to and in human genetics and dysmorphology

Charles E Schwartz; Arthur S Aylsworth; Judith Allanson; Agatino Battaglia; John C Carey; Cynthia J Curry; Kay E Davies; Evan E Eichler; John M Graham Jr; Bryan Hall; Judith G Hall; Lewis B Holmes; H Eugene Hoyme; Alasdair Hunter; Jeffrey Innis; John Johnson; Kim M Keppler-Noreuil; Jules G Leroy; Cynthia Moore; David L Nelson; Giovanni Neri; John M Opitz; David Picketts; F Lucy Raymond; Stavit Allon Shalev; Roger E Stevenson; Connie T R M Stumpel; Grant Sutherland; David H Viskochil; David D Weaver; Elaine H Zackai

doi:10.1002/ajmg.a.63514

Personal journeys to and in human genetics and dysmorphology

Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8.

Authors

Charles E Schwartz¹, Arthur S Aylsworth², Judith Allanson^{3

4}, Agatino Battaglia⁵, John C Carey⁶, Cynthia J Curry⁷, Kay E Davies⁸, Evan E Eichler^{9

10}, John M Graham Jr¹¹, Bryan Hall¹², Judith G Hall^{13

14}, Lewis B Holmes¹⁵, H Eugene Hoyme^{16

17

18}, Alasdair Hunter¹⁹, Jeffrey Innis^{20

21}, John Johnson²², Kim M Keppler-Noreuil²³, Jules G Leroy²⁴, Cynthia Moore²⁵, David L Nelson²⁶, Giovanni Neri²⁷, John M Opitz⁶, David Picketts^{28

29}, F Lucy Raymond³⁰, Stavit Allon Shalev^{31

32}, Roger E Stevenson³³, Connie T R M Stumpel³⁴, Grant Sutherland^{35

36}, David H Viskochil⁶, David D Weaver³⁷, Elaine H Zackai³⁸

Affiliations

¹ Senior Research Scientist Emeritus, Greenwood Genetic Center, Greenwood, South Carolina, USA.
² Emeritus Professor of Pediatrics and Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
³ Professor of Paediatrics, University of Ottawa, Ottawa, Canada.
⁴ Clinical Geneticist, Children's Hospital of Eastern Ontario (Retired), Ottawa, Canada.
⁵ Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
⁶ Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
⁷ Professor of Pediatrics, Emerita, UCSF, Adjunct Professor of Pediatrics, Stanford, Medical Director Genetic Medicine, Community Regional Medical Center, Fresno, California, USA.
⁸ Department of Physiology, Anatomy and Genetics, MDUK Oxford Neuromuscular Centre, Oxford, UK.
⁹ Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
¹⁰ Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.
¹¹ Professor Emeritus, Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.
¹² Emeritus, Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA.
¹³ University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.
¹⁴ Department of Pediatrics and Medical Genetics, British Columbia Children's Hospital, Vancouver, Canada.
¹⁵ Emeritus Chief, Medical Genetics and Metabolism Unit, Mass General for Children; Professor of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
¹⁶ Medical Director, Sanford Children's Genomic Medicine Consortium, Senior Advisor, Sanford Imagenetics, Sanford Health, Emeritus Professor and Past Chair, Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.
¹⁷ Adjunct Professor and Medical Director, Genetic Counseling Graduate Program, Augustana University, Sioux Falls, South Dakota, USA.
¹⁸ Extraordinary Professor of Psychiatry, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
¹⁹ Emeritus Clinical Geneticist, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
²⁰ Staff Physician, Pediatric Genetics, Golisano Children's Hospital of Southwest Florida, Fort Myers, Florida, USA.
²¹ Professor Emeritus of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
²² Emeritus Clinical Geneticist, Department of Medical Genetics, Shodair Hospital, Helena, Montana, USA.
²³ Professor of Pediatrics Division of Genetics & Metabolism, Program Director, Medical Genetics & Genomics Residency Training Program, Co-Director of the UW NORD Center of Excellence for Rare Diseases, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
²⁴ Professor Emeritus, Ghent University School of Medicine, Ghent, Belgium.
²⁵ National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control, Atlanta, Georgia, USA.
²⁶ Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, Texas, USA.
²⁷ Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.
²⁸ Senior Scientist, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
²⁹ Professor, Departments of Medicine, Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.
³⁰ Department of Medical Genetics, University of Cambridge, Cambridge, England.
³¹ The Genetics Institute, Emek Medical Center, Afula, Israel.
³² Rappaport Faculty of Medicine, Technion, Haifa, Israel.
³³ Equanimitas, Greenwood, South Carolina, USA.
³⁴ Emeritus Professor of Clinical Genetics, Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
³⁵ Emeritus Geneticist, Women's and Children's Hospital, Adelaide, South Australia, Australia.
³⁶ Emeritus Professor, University of Adelaide, Adelaide, South Australia, Australia.
³⁷ Professor Emeritus of Medical and Molecular Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
³⁸ Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

PMID: 38329159
DOI: 10.1002/ajmg.a.63514

Abstract

Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to unraveling rare diseases. Almost every medical specialty relies on individuals experienced in these specialties to provide diagnoses for patients who present themselves to other doctors. Additionally, both specialties have become reliant on molecular geneticists to identify genes associated with human disorders. Many of the medical geneticists, dysmorphologists, and molecular geneticists traveled a circuitous route before arriving at the position they occupied. The purpose of collecting the memoirs contained in this article was to convey to the reader that many of the individuals who contributed to the advancement of genetics and dysmorphology since the late 1960s/early 1970s traveled along a journey based on many chances taken, replying to the necessities they faced along the way before finding full enjoyment in the practice of medical and human genetics or dysmorphology. Additionally, and of equal importance, all exhibited an ability to evolve with their field of expertise as human genetics became human genomics with the development of novel technologies.

Keywords: dysmorphology; genetics; medical genetics; memoir.

Publication types

Historical Article

MeSH terms

Genetics, Medical*
History, 20th Century
History, 21st Century
Human Genetics
Humans