Medical Advisory Board
The Propionic Acidemia Foundation is honored to include the following metabolic and genetic specialists in our Medical Advisory Board:
For over 20 years, Dr. Berry has held major teaching and clinical positions in pediatrics and metabolism primarily at University Of Pennsylvania, CHOP, George Washington University and most recently at Children’s Hospital Boston. As a recognized expert in inborn errors of metabolism and endocrinology, Dr. Berry is the author of and invited lecturer on topics ranging from hyperammonemia, MSUD and galactosemia to metabolism of inositol in the brain. He has served as principal investigator for numerous research studies and has received numerous NIH grants for his work with galactosemia. Dr. Berry has been an active proponent of expanded newborn screening and serves on several advisory boards and international committees. In 2006, Dr. Berry joined Children’s Hospital Boston as the Director of the Metabolism Program.
Barbara K. Burton, M.D., Northwestern University Medical School and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 2003-present
Dr. Burton is Professor of Pediatrics at Northwestern University Medical School and Director of the PKU and Metabolic Disease Clinic at Ann & Robert H. Lurie Children’s Hospital of Chicago. She is a Board-certified biochemical geneticist, has made numerous contributions to the medical literature on metabolic disorders, and was extensively involved in initiating expanded newborn screening in Illinois. Dr. Burton has been particularly interested in educating physicians on the early recognition of symptoms of metabolic disorders.
Dr. William Nyhan is currently Professor of Pediatrics at UCSD School of Medicine in La Jolla, Ca. He has held appointments at University of Miami School of Medicine, Johns Hopkins University School of Medicine and has served on numerous pediatric advisory boards, advisory committees and research foundations. A lifetime of interests and areas of research span a wide variety of disorders of amino acid, organic acid and purine metabolism, including alkaptonuria, 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, propionic acidemia, and Lesch-Nyhan syndrome. Dr. Nyhan has studied the neuropathology of propionic acidemia including the manifestation of basal ganglia infarction and the neurologic non-metabolic presentation of PA. He is currently involved in the ongoing development of tandem mass spectrometry for use in diagnosis and research.
Mendel Tuchman, M.D., Chief Research Officer at Children’s National, Scientific Director of theChildren’s Research Institute, and a Professor of Pediatrics, Biochemistry and Molecular Biology and Integrative Systems Biology at the George Washington University, Washington DC.
Dr. Tuchman received his M.D. from the Sackler School of Medicine at Tel Aviv University. He completed his Pediatric Residency and Fellowship in Metabolism at the University of Minnesota and joined the University’s faculty rising to full Professor. Dr. Tuchman moved to Children’s National Medical Center in Washington D.C. 1999. He is a pediatric biochemical and molecular geneticist with an interest in inborn errors of metabolism. Dr. Tuchman is a clinical and translational researcher and educator and has received continuous grant support from the NIH for the past 25 years. Among his many accomplishments is finding of one of the urea cycle genes. Dr. Tuchman is currently the Principal Investigator of 3 NIH grants and a PCORI contract. Dr. Tuchman has published more than 180 peer-reviewed articles. He was the past-president of the Society for Inherited Metabolic Disorders and a member of several NIH review panels and research committees and is a board member on several foundations dedicated to research and advocacy of rare diseases. More information on Dr. Tuchman
Thank you to our emeritus medical advisory board members. Their dedication to the field of metabolics has been a great value to the PAF.
Pinar Ozand, MD, PhD (2003-2014)
Stuart K. Shapira, MD, PhD (2003-2005)
James Leonard, Ph.D, FRCP (2003-2008)