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. NelsonGiovanni 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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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.
Original languageEnglish
Number of pages80
JournalAmerican Journal of Medical Genetics Part A
DOIs
Publication statusE-pub ahead of print - 1 Feb 2024

Keywords

  • dysmorphology
  • genetics
  • medical genetics
  • memoir

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