Personal journeys to and in human genetics and dysmorphology

Author:

Schwartz Charles E.1ORCID,Aylsworth Arthur S.2,Allanson Judith34,Battaglia Agatino5ORCID,Carey John C.6ORCID,Curry Cynthia J.7,Davies Kay E.8ORCID,Eichler Evan E.910ORCID,Graham John M.11ORCID,Hall Bryan12,Hall Judith G.1314ORCID,Holmes Lewis B.15ORCID,Hoyme H. Eugene161718ORCID,Hunter Alasdair19,Innis Jeffrey2021ORCID,Johnson John22,Keppler‐Noreuil Kim M.23,Leroy Jules G.24,Moore Cynthia25,Nelson David L.26ORCID,Neri Giovanni27ORCID,Opitz John M.6ORCID,Picketts David2829ORCID,Raymond F. Lucy30,Shalev Stavit Allon3132ORCID,Stevenson Roger E.33,Stumpel Connie T. R. M.34,Sutherland Grant3536,Viskochil David H.6ORCID,Weaver David D.37ORCID,Zackai Elaine H.38ORCID

Affiliation:

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

Abstract

AbstractGenetics 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.

Publisher

Wiley

Reference5 articles.

1. Contruction of a linkage map in man using restriction fragment length polymorphisms;Botstein D.;American Journal Human Genetics,1980

2. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

3. Auditory Responsivity in the Human Premature

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