John M. Opitz

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. He held adjunct appointments in the Departments of Human Genetics, Pathology, and Obstetrics and Gynecology. He was an active participant in the fetal genetic pathology program in the Division of Pediatric Pathology at Primary Children's Medical Center until 2015. == Research ==

Opitz' research and interests, in addition to clinical genetics, covered a wide spectrum of genetic anomalies with focuses on sex determination and sex differentiation, skeletal dysplasias, intellectual disability, 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". == Editorial and published works ==

In 1976, Opitz founded and became Editor-in-Chief of the American Journal of Medical Genetics. Opitz retired as editor-in-chief of the AJMG in 2001 and was succeeded by John C. Carey. Opitz wrote over 500 papers and textbook chapters and edited 12 books. == Honors, awards and distinctions ==

Honorary membership: • German Pediatric Society- DGKJ(1989) • Israeli Society of Medical Genetics • Japan Society of Human Genetics • Russian Society of Medical Genetics • Italian Society of Medical Genetics • South African Society of Human Genetics • Portuguese Society of Human Genetics (2010) • Society of Pediatric Pathology (USA) Honorary degrees (h.c.): • 1982 – DSci, Montana State University, Bozeman • 1986 – MD, University of Kiel, Germany • 1999 – MD, University of Bologna, Italy • 2004 – MD, University of Copenhagen, Denmark • 2007 – DSci, Ohio State University, Columbus Awards and Recognition: • 2016 – Order of Merit of the Federal Republic of Germany known as the Bundesverdienstkreuz (BVK) • 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 == References ==