The leaders pioneering the future of vEDS research
Dr. Hal Dietz
Johns Hopkins University
Dr. Dietz is one of the leading US researchers in vascular Ehlers-Danlos syndrome. At Johns Hopkins, he has an entire lab devoted to vEDS.
He is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research.
Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate.
He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association.
Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored approximately 50 predoctoral and postdoctoral researchers. He has authored 213 original publications in peer-reviewed journals, 22 textbook chapters and 226 abstracts, and has also delivered more than 350 lectures on Marfan syndrome and related genetic disorders.
Dr. Dietz completed his B.S. at Duke University and received his M.D. from the SUNY Upstate School of Medicine. He completed a pediatric residency and a cardiology fellowship at Johns Hopkins University before joining the faculty in 1992. He is also board-certified by the American Board of Pediatrics.
Dr. Diana Johnson
Clinical Geneticist, United Kingdom
Dr. Diana Johnson, Consultant Clinical Geneticist, is consultant in the EDS National Diagnostic Service (UK). In addition to her expertise in the evaluation of patients with Rare and Complex EDS, Dr. Johnson also has a specialist interest in the skeletal dysplasias and dysmorphology, which further compliments her role.
Dr. Peter Byers
University of Washington, United States
Peter H. Byers, MD is a medical geneticist and Professor of Pathology and Medicine at the University of Washington. He received an undergraduate degree in anthropology from Reed College in Portland, Oregon and medical training at Case Western University in Cleveland, Ohio. He trained in internal medicine at UCSF before completing three years as a research associate at the National Institute of Dental Research, National Institutes of Health where he worked with George R. Martin to examine collagen biosynthesis and structure. He moved to the University of Washington for a fellowship in Medical Genetics and at the same time worked with Paul Bornstein in Biochemistry to begin to identify the underlying bases of heritable connective tissue disorders including forms of Ehlers-Danlos syndrome and osteogenesis imperfecta. His contributions to understanding these disorders range from the identification of mosaicism as a factor in variation in clinical severity of heritable disorders as well as an explanation for birth of affected siblings to unaffected parents, to studies of natural history of several genetic conditions.
Dr. Diana Milewicz
UTHealth, Houston, Texas
Dianna M. Milewicz, M.D., Ph.D., is the President George H.W. Bush Chair of Cardiovascular Medicine, Director of the Division of Medical Genetics and Vice-Chair of the Department of Internal Medicine at the University of Texas Health Science Center at Houston (UTHealth) McGovern Medical School. She completed her postgraduate training in internal medicine, specialized further in medical genetics, and forged a career in translational studies focused on genetic predisposition to vascular diseases. She has received numerous honors and awards for her research, including the Antoine Marfan Award, the Doris Duke Distinguished Clinical Scientist Award, and the University of Texas Presidential Scholars Award for Excellence in Research. She has been inducted into the American Society of Clinical Investigation and the Association of American Physicians. Dr. Milewicz has been the Director of the M.D./Ph.D. Program offered jointly between the University of Texas Health Science Center at Houston and MD Anderson Cancer Center institutions for over 10 years and is Chair of the GREAT MD/PhD Section Committee.
Dr. Sherene Shalhub
University of Washington, United States
Dr Shalhub (pronounced “shal-hoob”) is a board certified vascular surgeon. She is an Assistant Professor of Surgery in the Division of Vascular Surgery at the University of Washington. Dr. Shalhub earned her medical degree with honors from the Morsani College of Medicine at the University of South Florida in Tampa. She then moved to Seattle where she completed training as a general surgery resident and vascular surgery fellow at the University of Washington. Her training also includes a Master of Public Health degree (MPH) at the University of South Florida and a postdoctoral trauma research fellowship at the University of Washington.
Dr. Shalhub is a translational researcher at the University of Washington and was selected to the 2015 “rising star” career development program by the Institute of Translational Health Sciences at UW Medicine. Her overarching research goal is to personalize health care for patients with genetically triggered aortic and arterial dissections and aneurysms, and to improve success of surgical repair and long term survival for these patients. Currently, she is investigating the effect of gene mutations on vascular disease by utilizing a collaborative multidisciplinary approach combining genetics and surgical outcomes. She was recently awarded a grant by the EDS Network C.A.R.E.S. Foundation to establish a national registry for Vascular Ehlers-Danlos Syndrome.
Dr. Julie De Backer MD, PhD
Ghent University, Belgium
After completing her residency in cardiology in 2001, Julie De Backer took an additional training as a Clinical Geneticist in parallel with a predoctoral training funded by the Special Funds for Research from the Ghent University. After her PhD, she obtained a combined assignment as head of clinic at the Center for Medical Genetics and at the Department of Cardiology. She developed her own research line in genetic aortic disease and set up a Multidisciplinary Expertise Center for Genetic and Congenital Cardiovascular Disease at the Ghent University Hospital. She is involved in several international collaborations and consortia in the field of Heritable Thoracic Aortic Disorders. She was involved as a co-investigator on the BBEST trial assessing the effect of Selectol on clinical outcome in patients with vascular Ehlers Danlos Syndrome (PI Prof. Pierre Boutouyrie). She was a member of the Organizing Committee of the International Ehlers-Danlos Syndrome meeting held in Ghent in 2012.
She obtained a post-doc grant as Senior Clinical Researcher at the Funds for Scientific Research in 2008 with a renewal in 2013. She co-promoted the PhD thesis of Marjolijn Renard who is a major contributor on this project and is currently supervising two PhD students.
She is the president of the Belgian Working Group on Adult Congenital Heart Disease and nucleus member of the European Working group on Adult Congenital Heart Disease. To date, she has published 86 papers in international, peer-reviewed journals, ten as first author, and ten as senior author—her h-index is 24. She has published three book chapters. She gave 43 invited lectures, at major international conferences, including the European Society for Cardiology, Euro Echo, American Heart Association, Association for European Paediatric Cardiology.
Dr. Xavier Jeunemaitre
University Paris Descartes, France
Dr. Jeunemaitre received his MD and PhD in human genetics at the University P&M Curie, Paris, France. He was trained as an internist and specialized in cardiology before being trained in molecular genetics at the College de France in Paris and during a post-doctoral fellowship at the Institute of Human Genetics, Salt Lake City, University of Utah, USA. Dr. Jeunemaitre is now Professor of Genetics, University Paris Descartes, and the Head of the Department of Genetics and Centre for Rare Vascular Diseases at the Hospital Pompidou and the Director of the INSERM research team 3, U970, at the Paris Cardiovascular Research Centre, Paris, France. Its main scientific interests are the genetic determinants of cardiovascular disorders. Dr. Jeunemaitre authored or co-authored more than 250 peer-reviewed articles and chapters books. He is currently conducting clinical and experimental research on vascular Ehlers-Danlos syndrome.
Dr. Michael Frank
European Georges Pompidou, France
Dr. Michael Frank is currently coordinating the clinical activity of the French national referral centre for rare vascular diseases at the European Georges Pompidou in Paris, France, which he joined in 2009. His practice as a cardiologist and specialist in Vascular Medicine is focussed on diagnosis of vascular Ehlers-Danlos syndrome (vEDS) and other rare inherited vascular diseases, as well as acute care and follow-up of a large cohort of patients with vEDS.
His research activity is focussed on the pathophysiology of rare vascular diseases. Dr. Frank has been co-investigator in several studies on fibromuscular dysplasia and vEDS, and is the principal investigator of the MEDIC study (identification of biomarkers in vEDS, NCT02165085).