Medical Advisory Board
Dr. Carlos Ferreira
Dr. Ferreira is a staff clinician at the National Institutes of Health (NIH)/National Human Genome Research Institute (NHGRI) in Bethesda, Maryland, where he serves as the Principal Investigator of studies of various genetic conditions. Dr. Ferreira first became interested in rare disorders of calcification in 2013. He is currently the Principal Investigator of the “Study of People with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Hypophosphatemic Rickets Type 2 (ARHR2)” with the primary goal of the study being to determine the natural history of patients with GACI or ARHR2.
Dr. Shira Ziegler
Dr. Ziegler is an Assistant Professor in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. Since co-discovering the gene for an adult-onset disorder of arterial and joint calcification (arterial calcification due to deficiency of CD73; ACDC) in 2009, Dr. Ziegler has been committed to the study of rare disorders of vascular and ectopic calcification. During the initial characterization of ACDC, she realized that another disorder, pseudoxanthoma elasticum (PXE), had similar histopathology ‒ elastic fiber fragmentation of the internal elastic lamina of the vessel wall.
Dr. Demetrios Braddock
Dr. Braddock is a professor of pathology at Yale University. Since 2004, he has practiced hematopathology and led an independently funded laboratory investigating the pathogenesis of poorly understood diseases. His research focuses particularly on rare pediatric diseases and the design of novel biologics to modulate disease outcomes. As the scientific founder of Inozyme and the inventor of INZ-701/BMN-401, Dr. Braddock continues to explore ENPP1 deficiency phenotypes and develop novel therapeutics treating this disorder.
Professor Zulf Mughal
Professor Zulf Mughal graduated in medicine from the University of Liverpool, UK, in 1978. He received postgraduate training in Paediatrics at hospitals in Manchester and Liverpool in the UK, and in Cincinnati, USA. He was appointed a Consultant Pediatrician in 1988. He is currently employed as a Consultant in Paediatric Bone Diseases at the Royal Manchester Children’s Hospital. He has extensive experience in the management of childhood bone and mineral disorders. He has over 30 years of experience in managing paediatric cases of GACI and ARHR2. Professor Mughal has published more than 180 peer-reviewed scientific papers, invited reviews and book chapters.
Dr. Rachel Gafni
Dr. Rachel I. Gafni received her BA from Barnard College and her MD from Temple University School of Medicine. She completed a pediatric residency at the Children’s Hospital of Philadelphia followed by a pediatric endocrinology fellowship at the National Institutes of Health (NIH), serving as an officer in the United States Public Health Service from 1996-2002. She subsequently served as an Assistant Professor at the University of Maryland for 5 years.
Dr. David Weber
Dr. David Weber is a pediatric endocrinologist specializing in conditions that affect bone health and mineral metabolism. He is the Medical Director of the Center for Bone Health in the Division of Endocrinology and the Nutrition Core Research Director at the Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania. He is dedicated to improving the lives of people with rare diseases through clinical care and research. He has cared for patients with GACI and ARHR2 for over 15 years and has been involved in clinical research studies to better understand the medical and personal impacts of these conditions and has participated in clinical trials to study possible treatments.
Dr. Frank Rutsch
Frank Rutsch is an Associate Professor in Pediatrics at Münster University Children’s Hospital, Münster, Germany. Dr. Rutsch graduated from University Medical School in 1992 and took part in the pediatric residency program at Dresden University and Dortmund Municipal Hospital, Germany. After spending a postdoctoral research fellowship in the Department of Rheumatology and Immunology at the University of California, San Diego, he became the leader of an independent research group at Münster University Children’s Hospital in 2004.
Dr. Patty Musolino
Dr. Musolino M.D., Ph.D. is a critical care and vascular neurologist with expertise in gene therapy for white matter and cerebrovascular disorders. She is the director of the MGB Gene Therapy for Genetic Vasculopathies team and director of the pediatric stroke and cerebrovascular program at Massachusetts General Hospital. Dr. Musolino clinical and research expertise revolves around the translation of discoveries in human genetics to clinical application in white matter and cerebrovascular disorders.
Dr. Rajeev Malhotra, MD MS
Dr. Malhotra is an adult cardiologist at Mass General Brigham and an Associate Professor of Medicine at Harvard Medical School. Dr. Malhotra graduated from Harvard University in chemistry and physics and obtained a master’s degree in chemistry and chemical biology from the Harvard Graduate School of Arts and Sciences. He received his medical degree from the Health Sciences and Technologies Division of Harvard Medical School and MIT. Dr. Malhotra completed residency in internal medicine and fellowship in general cardiology at the Massachusetts General Hospital.
Dr. Karen Lincoln Wilber
Dr. Karen Lincoln Wilber, Au.D., has 30 years of experience as a clinical audiologist. Dr. Wilber also worked for many years consulting to public school systems in Massachusetts as an educational audiologist. Her particular interest in GACI arose after working with several patients with this disorder. Dr. Wilber is on the staff of Boston Children’s Hospital. She is a fellow of the American Academy of Audiology and is American Board of Audiology certified.
Dr. Michael Levine
Dr. Levine is a pediatric endocrinologist and Director of the Center for Bone Health at The Children’s Hospital of Philadelphia. His primary clinical interests are endocrine diseases that affect bone and mineral metabolism including Generalized Arterial Calcification of Infancy (GACI). Dr. Levine has an active laboratory research program that complements and extends his clinical studies. He has identified the molecular basis of several inherited disorders of mineral metabolism. As with many of Dr. Levine’s research projects, his interest in GACI was stimulated through his clinical experiences with affected children as well as their parents, who challenged him to think beyond conventional treatment paradigms.
