Research

John Opitz is primarily known as a clinical geneticist and pioneer of syndrome delineation and -definition (e.g. Opitz syndrome due to MID1 mutations; Opitz-Kaveggia syndrome due to MED12 mutations; Smith-Lemli-Opitz syndrome due to DHCR7 mutations, etc.). However, he has also contributed substantially to developmental biology and -pathology through rediscovery of the developmental field concept and its introduction into clinical morphology, and identifying the field as the fundamental unit of development and of evolution. John Opitz was founder and first director of the Wisconsin Clinical Genetics Center, founder and Editor-in-Chief for 25 years of the American Journal of Medical Genetics. He was also a founder of the American College and American Board of Medical Genetics. Among other activities he presently is the genetic coordinator of the Utah Stillbirth and Fetal Pathology Program.