John Marius Opitz

John M. Opitz (August 15, 1935 – August 31, 2023) was a German-American medical geneticist and professor at the University of Utah School of Medicine. He is best known for rediscovering the concept of the developmental field in humans (first enunciated by Hans Spemann in amphibians) and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes" including Smith–Lemli–Opitz syndrome (SLOS), Opitz–Kaveggia syndrome (FGS1), Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other autosomal and X-linked conditions. He was the founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics, and was a cofounder of the American College of Medical Genetics and American Board of Medical Genetics.

Early life John M. Opitz was born to a middle-class family in Hamburg, Germany on August 15, 1935. His father died of tuberculosis while Opitz was still young, a disease that he also contracted and caused him to spend 14 months in a sanatorium. After seven years of separation, he rejoined his mother in 1947 in Nuremberg where she worked as an interpreter for the US occupation forces during the war-crimes trials. They immigrated to the United States in 1950, eventually settling in Iowa City where Opitz' uncle, Hans Koelbel, was Professor of Cello and Chamber Music at the University of Iowa.

Education It was at the age of 15 that his uncle introduced him to Emil Witschi, an internationally acclaimed embryologist, endocrinologist, and zoologist at the University of Iowa, who fanned Opitz' interest in embryology, genetics and evolution. After completing high school, Opitz studied Zoology at the University of Iowa under Witschi's tutelage, receiving his bachelor's degree in 1956. With the approach of Witschi's retirement from the University of Iowa just previous to his graduation, Opitz wondered where he would go next as his previous plan had been to complete a PhD under Witschi. His mother told him to attend medical school, which he reluctantly agreed to. He attended the University of Iowa. His initial lack of interest dissipated as he was immersed in the world of clinical medicine.

He continued his work with Witschi while in medical school, completing a joint review on the biology of sex determination and sexual differentiation in animals (Witschi, Opitz, 1961). While attending medical school, Opitz was engaged in a variety of other research projects including: glucose metabolism (with N. Halmi), prostate cancer (R. Flocks), and hereditary hematuria (W.W. McCrory). Others who influenced Opitz while in medical school include Hans Zellweger and Jacqueline A. Noonan. He completed his medical degree in 1959 at the University of Iowa, also a rotating internship and his first year of pediatric residency.

Career

University of Wisconsin After completion of residency, Opitz searched for fellowship opportunities. He had followed closely the work of Patau, Inhorn and Smith in Madison on human aneuploidy and so, on July 1, 1961, after application and acceptance, Opitz began at the University of Wisconsin, where he completed residency. He spent the last 6 months as pediatric chief resident. He completed his fellowship (1962-1964) in Medical Genetics under the cytogeneticist Klaus Patau and the pediatrician-dysmorphologist David Weyhe Smith. Smith introduced him to the University of Wisconsin Children's Hospital where he began his work on the physical and biological manifestations of syndromes. He also gained experience in the evaluation of normal developmental variability by examining the newborn infants at St. Mary's Hospital in Madison for Smith's study of minor anomalies.

In Montana, Opitz continued research in genetic syndromes, often collaborating with Phil D. Pallister, leading to the discovery of several syndromes including the Pallister-Hall, KBG, and Pallister-Killian syndromes. This collaboration also led to the discovery of the first human X-autosome translocation which, according to McKusick, was a jumping off point for the era of chromosome mapping.

University of Utah In 1997, Opitz joined the faculty at the University of Utah School of Medicine as a Professor of Pediatrics in the division of Medical Genetics and also as a member of the clinical staff at the Children's Medical Center. human malformations and syndromes and the relationship between evolution and development.

"Opitz Syndromes" Opitz' work on identifying the physical and biological symptoms of genetic disorders led to the discovery of the "Opitz syndromes" and created an impetus for important basic science advances. These include documentation of the role of cholesterol in vertebrate development after description of the Smith-Lemli-Opitz syndrome

An abbreviated list of the syndromes to which Dr. Opitz has contributed or for which he was the first descriptor include: Bohring–Opitz syndrome C syndrome Cornelia de Lange syndrome KBG syndrome N syndrome Noonan syndrome Opitz G/BBB syndrome Opitz–Kaveggia syndrome (FGS1) Smith–Lemli–Opitz syndrome (SLOS) Zellweger syndrome

Spemann's developmental field In biology, Opitz' most important contribution was the reintroduction of the developmental field concept linking human evolution, genetics, and development. The discovery by Hans Spemann in 1922 of the "organizer" identified the "primary" field. Clinically, radius dysgenesis was defined as a developmental field defect on the basis of causal heterogeneity. Developmental fields are now known as the basic morphogenetic units of the vertebrate embryo. From a phylogenetic perspective, field theory was expanded in recent years to "modularity". 2011 – William Allan Award, ASHG 2005 – Medal of Honor of the DGfH (German Society of Human Genetics) 2002 – Establishment of the John M. Opitz Young Investigator Award, John Wiley and Sons-Publisher 2000 – Distinguished Alumni Award for Achievement, University of Iowa 2000 – Distinguished Achievement Award for Scientific Literature, IASSIDD 1996 – Humboldt Prize, Humboldt Foundation of Germany 1996 – Premio Phoenix Anni Verdi for Genetic Research, Italian Medical Genetics Society 1996 – Purkynĕ Medal, Czech Society of Medicine 1996 – Mendel Medal, Czech Society of Medical Genetics 1995 – Fellow of the American Association for the Advancement of Science 1994 – Great Seal, University of Palermo 1993 – Founding Fellow, American College of Medical Genetics 1991 – March of Dimes Colonel Harland Sanders Lifetime Achievement Award for Work in the Field of Genetic Science 1989 – University of Wisconsin Alumni Citation 1987 – Sidney Farber Lecturer, Society of Pediatric Pathology 1988 – Pool of Bethesda Award for Research in Mental Retardation, Bethesda Lutheran Home, Wisconsin 1979 – Corresponding member, DGK- German Society of Pediatrics 1969-1974 – Research Career Development Award (US PHS/NIH) 1967 – Fellow American Academy of Pediatrics ___ – Member, Brazilian Academy of Sciences 1985 – Member, German Academy of Sciences Leopoldina 1982 – Certified Diplomate American Board of Medical Genetics 1979-1981 – American Society of Human Genetics Board of Directors