Year: 2018
Type: editorial
Abstract: The American Journal of Medical Genetics Part A is fortunate to have two Deputy Editors-in-Chief (EIC): Dr. Ben Solomon, who started in this position in January 2017, and now Dr. Anne Slavotinek, who became the second Deputy EIC in July 2018. Benjamin D. Solomon. Deputy Editor-in-Chief. Anne Slavotinek, MBBS, PhD, grew up in South Australia and completed her medical education and internship at the University of Adelaide. She studied internal medicine at Flinders University and then moved to Edinburgh, where she worked at the MRC Human Genetics Unit and completed a PhD. She trained to be a Clinical Geneticist in the United Kingdom, first as a registrar at the Churchill Hospital in Oxford and then as a senior registrar at St. Mary's Hospital in Manchester. After moving to the United States, she worked in the laboratory of Dr. Leslie Biesecker as a postdoctoral Fellow at the National Institutes of Health (NIH) before re-training to become Board-certified in Clinical Genetics in the United States at the same institution. Dr. Slavotinek has been a faculty member of the Division of Genetics in the Department of Pediatrics at the University of California, San Francisco since completing her certification and is currently a Professor of Clinical Pediatrics. She recalls her first contact with the journal as follows: “I still vividly remember my first submission to the American Journal of Medical Genetics. It was at the end of my first year as a Genetics trainee in Oxford in England, and it was my first clinical genetics paper. In those days, manuscript submissions were sent in enormous envelopes with a printed text and photos, often in triplicate, by mail to the journal office. I eagerly awaited the answer by post and happily ripped open the reply. I was heartened by the journal's response of interest in the paper, but completely crestfallen when I saw that my carefully typed paper was submerged in seas of red ink that were corrections from the journal editor, some indicated by symbols that I had never seen before. I did not think that what I had written had been quite that dreadful! I finally forced myself to show it to my Attending, who was also the senior author. She simply said “He does that sometimes,” meaning that I would have to make all of the changes without complaining. I grimaced and rolled my eyes as I started the work, thinking that the red marks would prove to be minor grammatical differences that were unnecessary. However, I could not help but wonder at the energy and thoughtfulness of that editor, who was so proud and confident about his product that he would spend precious time going through a paper, carefully considering it word by word, in order to ensure that only the best version was published. Of course, I learned many things from those edits, although I would not have wanted to admit it then. Anne Slavotinek. Deputy Editor-in-Chief. “Times have moved on since the world of paper submissions and corrections in red ink, but the dedication of that editor, Dr. John Opitz, has been something that I have remembered, in the end with an understanding and admiration that came years after I finished training. It is in the spirit of that editor that I would like to work for the American Journal of Medical Genetics. Submission of a manuscript can be more than the transactional process of getting a paper published. It is an opportunity to break new intellectual ground, and to change the way in which we consider a disease. It is also a chance to inspire. I would like to honor those aspects as we move forward into this next phase for the journal.” Ben Solomon, MD, leads GeneDx as Managing Director and is a practicing clinical geneticist. He completed his clinical genetics training at the National Institutes of Health/National Human Genome Research Institute (NIH/NHGRI), and stayed there for several years after completing his fellowship. During his time at NIH/NHGRI, he studied congenital disorders as well as applications of new sequencing and analytic techniques to broader health questions. After leaving NIH, he served as the Chief of the Division of Medical Genomics at the Inova Translational Medicine institute (ITMI), where he focused on whole-genome sequencing-based research and clinical analyses. In addition to his role at GeneDx, he still sees patients for ITMI. Ben describes his inspiration for genetics: “I initially fell for genetics when my ninth-grade science teacher first showed us Punnett squares. (To my amazement, though perhaps this simply reflects the fact that my kids are much brighter than I as much as scientific progress, Punnett squares were part of the standard curriculum for my daughter's fifth grade science class.) My first Punnett square encounter was before email, and I remember calling my relatives to ask everyone about their eye color, quickly betraying my initial naïveté about the complexity of genetics. “Despite my love of genetics from that first encounter, I took a hiatus from all things genetic (and academic) for a number of years after college, and worked as a whitewater kayaker. I was able to travel all over the world, and had some terrific adventures. When one too many freezing, damp nights huddled in a tent got to me, I returned to medical school, and jumped right back into genetics—this was underscored for me by the amazing geneticists at my medical school (including Mary Beth Dinulos, John Moeschler, and Jim Filiano). Their intellectual curiosity, as well as the incredible compassion they showed for patients, and families was, and remains truly inspiring. “For me, the constant way the field is changing—and the way we can leverage new technologies and knowledge to better help patients—keeps it exciting and rewarding. I also feel that medical literature holds a special place for clinical genetics—because so many important conditions may only be described in one or a few people, well-documented, accurate, and timely publications are vital for the entire field.” Max Muenke, MD, the EIC of the American Journal of Medical Genetics Part A (the “Blue Journal”) since January 2017 (Muenke, 2017) and Part C (Seminars in Medical Genetics) since January 2018, grew up “in the middle of nowhere” near a lock on the Küstenkanal (“Coast Canal”) in Northern Germany near the Netherlands' border. He recalls that his interest in nature started early: Maximilian Muenke. Editor-in-Chief. “As a child and adolescent, I had my own garden and a menagerie of over 100 animals: a dog, a sheep, several canaries, numerous pigeons, gerbils, and mice too many to count, as they did not seem to stop reproducing. I still remember the feeling of awe when my black mice had an occasional white offspring among an otherwise black litter and I predicted that two white mice would have all white pups. “My first encounter with the Blue Journal happened during medical school at the Free University of Berlin. I was a teaching assistant in a class entitled “Biology for Medical Students,” and it was my job to teach a section with a focus on medical genetics. The overheads I used for the class were copies of patient photos from the first issues of the American Journal of Medical Genetics in 1977 and 1978. In my somewhat provincial ways, I remember the pride I felt that the German-born Dr. John M. Opitz, was the Founding Editor-in-Chief of this journal. At that time, even in my wildest dreams could I not have imagined that I would become the third Editor-in-Chief of this journal.” The three current editors have some key differences in upbringing in three continents (Australia, Europe, North America), different primary specialties (internal medicine, pediatrics), overlapping professional interests (including clinical care, basic and translational research, education, diagnosis), and different current workplace settings (academia, industry, government agency). However, the three are licensed physicians and practicing clinical geneticists who have a passion for better understanding genetics and genetic conditions. We hope that these differences and commonalities will benefit all who encounter the journal in any and every way. The field of medical genetics is evolving quickly, but the mission of the journal, led by the editors and leadership team, remains the same: to devote itself to the study of the cause, pathogenesis, delineation, and management of human congenital anomalies and genetic disorders.
DOI: 10.1002/ajmg.a.40474
Language: English
Subfield: History and Philosophy of Science
Field: Arts and Humanities
Domain: Social Sciences
Open Access status: bronze
Funder: National Institutes of Health
OpenAlex ID: W2885145011