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James Weisfeld-Adams, M.B., Ch.B., F.A.A.P., F.A.C.M.G

Medical Advisor

Dr. James Weisfeld-Adams is an attending physician in Clinical Genetics and Metabolism at Children’s Hospital Colorado and an Assistant Professor of Pediatrics, University of Colorado, Denver, United States. He has a clinical focus in inherited metabolic diseases, hereditary eye diseases, and neurogenetic conditions, and a particular research focus on clinical outcomes in patients with homocystinurias, especially the cobalamin C (cblC) defect and other inherited disorders of intracellular cobalamin (B12) metabolism. He takes care of patients of all ages with homocystinurias, cobalamin disorders, and remethylation defects as well as dozens of other inherited metabolic disorders.

Dr. Weisfeld-Adams obtained his medical degree (M.B., Ch.B.) from University of Aberdeen, Scotland in 2003, and then completed residencies in Child Neurology at the Royal Hospital for Sick Children (Glasgow, Scotland) and Bristol Children’s Hospital (Bristol, England), before completing a 5-year residency program in Pediatrics and Medical Genetics at Mount Sinai School of Medicine, New York, NY, and a fellowship in Biochemical Genetics, also at Mount Sinai School of Medicine. He was the recipient of the ACMG Foundation/Genzyme National Fellowship Award for Biochemical Genetics in 2012. Dr. Weisfeld-Adams is US board-certified in Pediatrics and Clinical Genetics.
 
Since his appointment at Children’s Hospital Colorado and University of Colorado-Denver in 2013, Dr. Weisfeld-Adams has divided his time between clinical responsibilities and clinical research, and is active in student, resident and fellowship educational programs at the University of Colorado-Denver School of Medicine. His interests include disease mechanisms in several inherited metabolic, neurometabolic and ocular disorders including defects in cobalamin metabolism, disorders of myelin development, and newborn screening algorithms for the early detection of rare metabolic diseases. He has a particular clinical interest in developing multi-center prospective and collaborative registries for patients with rare metabolic diseases, so that more can be learned about these diseases to inform development of effective therapeutic strategies. He has more than 25 peer-reviewed publications on rare inherited diseases, including several on cobalamin defects, and has authored a book chapter on hyperhomocystinemia. Dr. Weisfeld-Adams is also the Children’s Hospital Colorado site lead investigator for the Urea Cycle Disorders Consortium (UCDC) longitudinal study, and is involved in several clinical trials for rare disease therapeutics.