Wilson Disease Association Medical Advisory Committee

The Medical Advisory Committee advises the leadership of the Association on medical and scientific aspects of Wilson’s disease and recommends medically related programs, policies and research which will help the WDA to implement its mission.

Michael L. Schilsky, MD Chair
Yale Medical Center
New Haven, Connecticut

Dr. Michael Schilsky received his medical degree from the University of Chicago, Pritzker School of Medicine and completed his residency, fellowship in gastroenterology and research training in liver diseases at The Albert Einstein College of Medicine and Montefiore Medical Center. As a member of the Division of Gastroenterology and Liver Research Center, Dr. Schilsky trained with Dr. Irmin Sternlieb, and developed his clinical and research interests in inherited metabolic disorders of the liver, Wilson disease and hemochromatosis. He was appointed Associate Professor of Medicine, and developed an international reputation for his work on metabolic liver disease. In 1999 Dr. Schilsky joined the faculty of The Mount Sinai Medical Center. As a member of the Division of Liver Diseases and Recanati/Miller Transplantation Institute he evaluated and cared for patients with liver diseases and liver transplants, became director of the Liver Medicine Clinic, and created a Center of Excellence for the diagnosis and care of patients with Wilson disease. He also created and directed the Metal Analysis Laboratory and was involved in research projects on Wilson disease, hemochromatosis and acute liver failure. In 2008 he co-authored the updated AASLD practice guidelines for Wilson disease and is the author of numerous original manuscripts and reviews.

Dr. Schilsky joined the Yale University Medical Center in 2007. He is a Professor of Medicine and Surgery in the Division of Digestive Diseases and Transplant and Immunology. He is also the Medical Director of Adult Liver Transplant at the Yale New Haven Transplantation Center and the Director of the WDA Center for Excellence for Wilson Disease at Yale. In 2017 Dr. Schilsky launched the first Wilson Disease Patient Registry site, at Yale. His recent book credits include: Volume Editor of the Handbook of Clinical Neurology, Vol. 142 (3rd series) Wilson Disease published by Elsevier in 2017, and Editor of Management of Wilson Disease, A Pocket Guide published by Springer in 2018.

Fred Askari, MD, PhD
Director, Wilson’s Disease Center of Excellence Clinic,
University of Michigan
Ann Arbor, Michigan

Dr. Askari received his medical and doctorate degrees from from Cornell University Medical College in 1987. He completed his fellowship in gastroenterology in 1996 at the University of Michigan. His clinical and research interests encompass viral hepatitis, medical genetics, hepatology, and liver transplantation. As an outgrowth of these interests, and his association with Dr. George Brewer, Dr. Askari became skilled in the study and treatment of Wilson’s disease. While previous Wilson’s disease clinical research focused on the neurological aspects of Wilson’s disease, Dr. Askari is concentrating on improving the diagnosis and treatment of hepatic Wilson’s patients. As Director of the Wilson’s Disease Center of Excellence Clinic, at University of Michigan, Dr. Askari has seen and treated patients, and consults with physicians and patients from all parts of the world, advising on the latest advances in Wilson’s disease diagnosis and treatment. He is the author of the widely read and quoted, Hepatitis C, the Silent Epidemic, and has co-authored many manuscripts and journal articles.

Sihoun Hahn, MD, PhD
Children’s Hospital and Regional Medical Center
Seattle, Washington

Dr. Hahn received his medical degree from Korea University in Seoul, Korea and completed his pediatric residency at Korea University Medical Center. He finished his medical genetics fellowship at National Institute of Health, Bethesda, MD and was a recipient of National Research Service Award fellowship. He is board certified for clinical genetics and clinical biochemical genetics. He developed his interests in inborn errors of metabolism during his pediatric residency and then specifically on copper-related metabolic diseases during his fellowship training at NIH. He was recruited at Ajou University in Suwon, Korea to lead the genetics program in 1994 and then to Mayo Clinic in Rochester, MN in 2001 as a co-director of biochemical genetics laboratory. His research on Wilson disease include mutation analysis, cloning and characterization of promoter region of Wilson disease gene to understand the regulation of gene expression and then population screening program for early detection. He has conducted a few small pilot studies for Wilson disease screening in Korea and U.S. and is now focusing on the project of newborn screening for Wilson disease. He also developed a clinical genetic test for Wilson disease at Mayo Clinic. Dr. Hahn recently moved to Seattle as a professor and head for biochemical genetics program at University of Washington, Children’s hospital.

Eve A. Roberts, MD, FRCPC
Halifax, Nova Scotia, Canada

Dr. Roberts was educated at Bryn Mawr College and the Johns Hopkins University School of Medicine where she obtained her MD degree in 1973. Her postgraduate training included internship/residency at the Johns Hopkins Hospital, senior residency at the New York Hospital-Cornell Medical Center, training in hepatology with Dame Sheila Sherlock at the Royal Free Hospital in London, UK, and research training relating to hepatic pathophysiology and pharmacology at the University of Toronto. She joined the staff of the Hospital for Sick Children and its Research Institute in 1984, where she has focused on paediatric hepatology. She was appointed Senior Scientist in the Research Institute in 1990 and Professor of Paediatrics, Medicine and Pharmacology at the University of Toronto in 1998. She has been president of the Canadian Association for the Study of the Liver and chairman of the Board of the Canadian Liver Foundation. She is currently chairman of the Institute Advisory Board for the Institute of Nutrition, Metabolism and Diabetes of Canadian Institutes of Health Research. Her clinical research interests include a broad spectrum of pediatric liver disorders, and her laboratory research has focused on drug hepatotoxicity and Wilson disease. She was the principal clinician-researcher on the research team which identified the gene abnormal in Wilson disease. In 2008 she received the Gold Medal, sponsored collaboratively by the Canadian Association for the Study of the Liver and the Canadian Liver Foundation. In 2007 she moved to Halifax and is currently engaged in the equivalent of a sabbatical at Dalhousie University where she is doing graduate work toward a Master’s degree.

Dennis Thiele, PhD
Durham, North Carolina

Dennis J. Thiele is the George Barth Geller Distinguished Professor of Pharmacology and Cancer Biology at Duke University School of Medicine. Thiele received his PhD in Microbiology at Rutgers University School of Medicine and carried out Postdoctoral training in the Laboratory of Biochemistry at the National Cancer Institute, National Institutes of Health. Thiele was on the faculty in the Department of Biological Chemistry at the University of Michigan Medical School in Ann Arbor, Michigan for 16 years prior to moving to Duke University School of Medicine in 2003. Thiele is an expert in copper homeostasis and its disorders and has been a leading investigator in this field for over 25 years. Dr. Thiele is the recipient of the Burroughs Wellcome Toxicology Scholar Award, the University of Michigan Faculty Recognition Award, the University of Michigan Distinguished Faculty Achievement Award, the Distinguished Alumni Award from the University of Medicine and Dentistry of New Jersey, the Rutgers University Graduate School Distinguished Alumni Award and was elected as a Fellow of the American Association for the Advancement of Science and a Fellow of the American Academy of Microbiology. Thiele has trained over twenty-five graduate students and postdoctoral fellows who hold independent research and teaching positions in academia or industry around the globe.

Regino Gonzalez-Peralta, MD
Advent Health
Orlando, Florida

Dr. Gonzalez-Peralta received his BA (Chemistry) from Cornell University and MD degree from the School of Medicine at Universidad Central del Este (Dominican Republic). He completed Pediatrics residency at Cook County Children’s Hospital and University of Florida. At the University of Florida, Dr. Gonzalez-Peralta also served as Chief Resident, completed Pediatric Gastroenterology fellowship training and joined the faculty as an Assistant Professor. He rose through the academic ranks and currently serves as Professor, Director of Pediatric Hepatology and Assistant Dean of the Office of Diversity and Health Disparity. Dr. Gonzalez-Peralta’s academic pursuits have focused on developing a program in Pediatric Hepatology. His laboratory work defined the pathogenesis of liver-cell damage and the importance of viral heterogeneity in chronic hepatitis C. He began to ‘miss’ interactions with patients and their families. Accordingly, as a way to reconcile personal and academic-research interests, Dr. Gonzalez-Peralta became actively involved in studying the clinical impact of HCV infection in children. With support from the pharmaceutical industry and NIH, he has participated in pivotal investigator-initiated and industry-sponsored pediatric trials of chronic hepatitis B and C, including ongoing studies of direct acting antivirals. He developed an interest in pediatric Wilson disease and has actively participated in WDA activities, including presenting at annual meetings of the organization. In addition, he has held elected leadership positions within the American Association for the Study of Liver Diseases and the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition.

Paula Zimbrean, MD, FAPA, FAPM
Assistant Professor of Psychiatry and Surgery (Transplant)
Yale University School of medicine

Dr. Zimbrean received her medical degree from the Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania. She completed her psychiatry residency training at Columbia University-St Luke-s Roosevelt Hospital in New York City, followed by a fellowship in addiction psychiatry and a fellowship in psychosomatic medicine at Yale University. She has been a faculty at Yale University since 2005 working primarily at the interface between medical illness and psychiatric and addictive disorders. She is currently the Director of Transplant Psychiatry Section at Yale New Haven Hospital. Dr. Zimbrean has been collaborating with Dr. Schilsky at the Yale Wilson Disease Center of Excellence since 2010 and is the author or co-author of several publications focusing on psychiatric aspects of Wilson disease.

Svetlana Lutsenko, PhD
Professor of Physiology
Johns Hopkins University

Svetlana Lutsenko received her doctoral degree from the Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry in Moscow (Russia) and had her postdoctoral training at the University of Pennsylvania (Philadelphia) where she focused on the molecular mechanisms of metal ion transport. In 1994, during her postdoctoral studies, Dr. Lutsenko contributed to the first characterization of the structure of Wilson’s disease gene. Realizing how little is known about the mechanisms of copper transport in human cells, she decided to focus her future research on the chemistry and biology of Wilson’s disease. In 1996, Dr. Lutsenko became an Assistant Professor at the Department of Biochemistry and Molecular Biology at the Oregon Health & Science University (OHSU, Portland, OR) and initiated studies on the structure, function, and regulation of Wilson’s disease protein (ATP7B). Her laboratory has developed various assays that she and her colleagues use to characterize the effects of disease-causing mutations on ATP7B in vitro and in cells. Her laboratory is also developing cellular and animal models to understand the effects of copper accumulation on liver physiology; she is currently working on identifying factors that trigger neurologic manifestations in Wilson’s disease. While at OHSU, Dr. Lutsenko received NIH and NSF grant awards to study copper metabolism and rose to the rank of Professor of Biochemistry and Molecular Biology. In 2009, Dr. Lutsenko moved to Johns Hopkins University School of Medicine, where she holds position of Professor of Physiology and continues her studies of human copper metabolism in norm and disease. Dr. Lutsenko served as a member and a Chair of the NIH Biochemistry and Biophysics of Membranes Study Section, and she is a member of the Editorial Board for the Journal of Biologic Chemistry.

Jeff Bronstein, MD, PhD
University of California Los Angeles
Los Angeles, California

Jeff Bronstein received his bachelor’s degree from the University of California, Berkeley and MD and PhD from UCLA as a recipient of the Medical Scientist Training Program Award. He completed a residency in Neurology and fellowship training in Movement Disorders at UCLA and at Queens Square in London. Dr. Bronstein also completed a postdoctoral fellowship in molecular biology before being appointed an Assistant Professor of Neurology in 1994, Director of the Movement Disorders Program at UCLA in 1996. Professor of Neurology in 2006, and Professor of Molecular Toxicology in 2007.

His clinical interests include the medical and surgical management of Parkinson’s disease (PD), Wilson’s disease and other movement disorders.

Dr. Bronstein runs an active research program that includes clinical trials to develop new therapies, He also directs a basic science laboratory investigating the causes of PD (environmental and genetic) using cell and zebrafish models as well as population-based studies.

Peter Hedera, MD, PhD
University of Louisville
Louisville, Kentucky

Dr. Hedera earned his Doctor of Medicine degree at the Medical School of Ian Amos Comenius University in Bratislava, Czechoslovakia (currently the Slovak Republic) in 1987. He graduated magna cum laude and was awarded the University Presidents Prize of Honor. In 1991 he relocated to the United States and did a residency in Neurology at the University of Michigan Medical Center in Ann Arbor, MI, followed by a residency in Medical Genetics, Department of Pediatrics at the same institution.

Dr. Hedera’s interest in diagnosis and treatment of Wilson’s disease started during his training at the University of Michigan Medical Center where he worked with Dr. Brewer treating and evaluating Wilson’s disease patients with neurologic symptoms.

Dr.Hedera joined faculty in the Department of Neurology at Vanderbilt University, Nashville, TN in 2002. He is a member of the Division of Movement Disorders and maintains a strong interest in management of Wilson’s disease with the emphasis on neurologic manifestations, including treatment with neurotoxins and deep brain stimulation surgery for its neurologic complications.

He authored numerous scientific publications and serves as an Editor-in-Chief of the Journal of Parkinsonism and Restless leg syndrome.