Back to Search Start Over

Personal journeys to and in human genetics and dysmorphology.

Authors :
Schwartz CE
Aylsworth AS
Allanson J
Battaglia A
Carey JC
Curry CJ
Davies KE
Eichler EE
Graham JM Jr
Hall B
Hall JG
Holmes LB
Hoyme HE
Hunter A
Innis J
Johnson J
Keppler-Noreuil KM
Leroy JG
Moore C
Nelson DL
Neri G
Opitz JM
Picketts D
Raymond FL
Shalev SA
Stevenson RE
Stumpel CTRM
Sutherland G
Viskochil DH
Weaver DD
Zackai EH
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63514. Date of Electronic Publication: 2024 Feb 08.
Publication Year :
2024

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.<br /> (© 2024 Wiley Periodicals LLC.)

Details

Language :
English
ISSN :
1552-4833
Volume :
194
Issue :
6
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Academic Journal
Accession number :
38329159
Full Text :
https://doi.org/10.1002/ajmg.a.63514