Standing on the shoulders of giants.

Abstract

Founded in 1977 by a giant in the field, the eminent Dr. John M. Opitz, the American Journal of Medical Genetics is now about to turn 40 years old [Opitz, 1977]. Famous for the “red pen” with which he used to mark changes in every single manuscript, Dr. Opitz had an impact on at least two generations of medical geneticists. When Dr. John C. Carey became the second Editor-in-Chief of the “Blue Journal” [Carey, 2001], he continued this tradition with his “purple pen” until, under his leadership, the AJMG submission and peer review process became fully electronic. I am honored, a bit daunted, and truly excited to become the third Editor-in-Chief of the American Journal of Medical Genetics (Part A), a journal that I consider to be the premier medical genetics journal. My fascination with pursuing medical genetics as a life-long career started during my senior year in high school. I attended a lecture by Prof. Widukind Lenz at the University of Münster, Germany where he spoke about his work with children who had limb anomalies following prenatal maternal thalidomide exposure. I followed Prof. Lenz's advice to attend medical school, train in pediatrics (with Prof. Wiedemann at the University of Kiel, Germany), pursue medical genetics (with Dr. Elaine Zackai at the Children's Hospital of Philadelphia), and to focus on research on both human and medical genetics (with Prof. Karl Sperling at the Free University of Berlin, and Drs. Uta Francke at Yale and Robert Nussbaum at the University of Pennsylvania). My first encounter with a newborn with holoprosencephaly on Rosh Hashanah in 1986 was memorable during my fellowship training at the Children's Hospital of Philadelphia. Little did I know that the beginning of this New Year would also mark the beginning of my lab's long-term focus on identifying the underlying causes of the most common anomaly of the developing forebrain. This work very much benefitted from Dr. John Opitz's influence and support. As the Editor-in-Chief of AJMG, he invited me after an initial manuscript on a patient with holoprosencephaly [Münke et al., 1988] to write a review article for his journal [Münke, 1989]. This was also the start of a long-distance mentor/mentee relationship that had a lasting effect on my career and my professional interest in understanding normal and abnormal early embryonic development in humans. As I am grateful to the many mentors in my life, it has been rewarding for me to mentor the next generation of trainees in my own lab, as the director of the NIH Medical Genetics and Genomic Medicine training programs, and through work with international trainees and partners [Muenke, 2016]. Lastly, over the past six months Dr. John Carey has gone out of his way to mentor me for my role as the incoming Editor-in-Chief of the Blue Journal (Fig. 1). Personally and professionally I recognize that I am coming full circle back to malformation syndromes and medical genetics: based on my personal experience in various clinics in Africa, Asia, and South America (and documentation in the literature), it is clear that individuals with genetic syndromes from diverse ancestral backgrounds present with different dysmorphic findings than those depicted in textbooks, the latter being mostly of Northern European descent. This causes diagnostic challenges and can lead to difficulties providing the best care for underrepresented groups. In collaboration with experts at the NIH and an international advisory board, we have begun creating an “Electronic Atlas of Human Malformation Syndromes in Diverse Populations” (www.genome.gov/atlas). The first article in this series has been published in the current issue of AJMG [Kruszka et al., 2017]. In short, I consider the American Journal of Medical Genetics to be the leading medical genetics journal in the world, and the one that is by far the most valuable to the practicing genetics professional. The consistent high quality of manuscripts since its start in 1977 has helped define the field of medical genetics. Individual case reports followed by case series in the Journal have defined new syndromes and/or have expanded classically defined phenotypes. Expert consensus articles on well-known syndromes have become “classics” in the diagnosis and management of individuals with malformations and other genetic syndromes. As Editor-in-Chief, I see it as my goal to carry on the tradition for AJMG to be the leading journal in the field of medical genetics. John M. Opitz's 1977 foreword to the new American Journal of Medical Genetics starts with: “And in the fullness of time the American Journal of Medical Genetics came to be ….” and he ends with: “And yes indeed, forward, by all good means.” *Maximilian Muenke wrote this article in his personal capacity. The views expressed are his own and do not necessarily represent the views of the National Institutes of Health or the United States Government.