SCIENTIFIC ADVISORY BOARD

Dr. Thomas Franklin, PhD
Dr. Franklin is an accomplished and well-published cardiovascular physiologist with 34 years of experience as a researcher, educator, and technology administrator including 18 years with Indiana University School of Medicine, serving as CEO of the Texas Health Research Institute, and currently as Executive Vice President of research and regulatory affairs for Organ Transport Systems, Inc. Dr. Franklin received his Ph.D. in Physiology and Biophysics from the University of Illinois at Urbana-Champaign, his M.S. in Cardiovascular Physiology from Bowman Gray School of Medicine, and his B.S. in Biology from Wake Forest University. Dr. Franklin also has a grandson
with PKU.

Dr. Harvey Levy, MD
Dr. Levy is a renowned metabolic physician at Children’s Hospital Boston and a Professor of pediatrics at Harvard Medical School with a specialty in Biochemical Genetics. Dr. Levy received his M.D from Medical College of Georgia, and is board certified in Pediatrics, Medical Genetics, and Clinical Biochemical Genetics.

Kathryn Moseley, MS, RD
Ms. Moseley is well known in the PKU community as a leading metabolic dietitian and is an Assistant Professor of Pediatrics at the Keck School of Medicine at the University of Southern California. She is currently the Chair of Public Policy for the American Dietetic Association Pediatric Nutrition Practice Group and President of the California Coalition for PKU and Allied Disorders. Kathryn received her B.S. in Dietetics and Food Service Administration at the California State University, Long Beach Ca., her M.S. in Human Nutrition at the University of New Haven. She also has an adult daughter with PKU.

Dr. Ray Stevens, PhD
Dr. Stevens is an internationally known and well published chemist and structural biologist who is focused on understanding and developing treatment options for various diseases and disorders. In 1997, he discovered the structure of phenylalanine hydroxylase (the protein responsible for PKU) and has helped lead to the development of Kuvan and PEG-PAL. He is currently a Professor at The Scripps Research Institute, a leading researcher and thought leader in the PKU community and currently sits on multiple editorial boards. Dr. Stevens received his B.A. from University of Southern Maine and a Ph.D. from University of Southern California followed by National Institutes of Health Postdoctoral Fellowship at Harvard University.

Dr. Bryan Hainline, MD, PhD
Dr. Bryan Hainline is the Director at the Division of Clinical and Biomedical Genetics and the Medical Director of the Indiana University Genetic Counseling Program. Dr. Hainline received his MD and PhD degrees at Duke University, North Carolina. Dr. Hainline completed his pediatric internship and residency at the St. Louis Children's Hospital, St. Louis, Missouri. He underwent fellowship training in clinical, biochemical and molecular genetics at Washington University School of Medicine. He is board certified by the American Board of Pediatrics, and the American Board of Medical Genetics, with certification in Clinical Genetics, and Biochemical/Molecular Genetics.

Dr. Uta Lichter-Konecki, MD, PhD

Dr. Uta Lichter-Konecki is director of the Metabolism Program at Children’s National Medical Center in Washington, DC. She earned her medical degree at the University of Heidelberg and her doctorate in medicine in the Department of Pediatrics at the University with a neuropediatrics and pediatric oncology related theme and completed her training in pediatrics and metabolic diseases. After her family moved to the United States, she enrolled in the Metropolitan Washington DC Medical Genetics Training program at the National Human Genome Research Institute and became board certified in clinical genetics in 2002 and in clinical biochemical genetics in 2005. She has 20 years of research and clinical experience
in inborn errors of metabolism in both Europe
and the US.

Dr. Cary Harding, M.D., F.A.C.M.G.
Dr. Harding is an Associate professor in the Departments of Molecular and Medical Genetics and Pediatrics at Oregon Health & Science University (OHSU). He is board certified in pediatrics, clinical genetics, and biochemical genetics. He received his medical degree from the University of Washington followed by pediatric and medical genetics training at the University of Wisconsin-Madison. Dr. Harding is a founding fellow of the American College of Medical Genetics. He is an attending physician on the OHSU clinical genetics service, the clinical genetics clinic, and the metabolic clinic at Doernbecher Children's Hospital and the medical director of the biochemical genetics laboratory in the Knight Diagnostic Laboratories at OHSU. He is also a clinical consultant to the Northwest Regional Newborn Screening Program and to the State of Idaho Genetics Program. Dr. Harding's basic and clinical research programs are focused upon the development of novel therapies, including gene and cell therapies, for inborn errors of metabolism. Dr. Harding has received the NPKUA Research Grant and renewal in 2011 and 2012.

Dr. Desiree White, PhD
Dr. White is a Professor of Psychology at Washington University in St.Louis. Dr. White's Developmental Neuropsychology Laboratory research focuses on cognitive development in typically-developing children and children with damage to frontal brain regions. Primary emphasis is on executive abilities such as working memory, inhibitory control, response monitoring, and strategic processing. Neuroimaging correlates of cognition are examined using methods such as diffusion tensor imaging. Studies of pharmacological effects on brain and cognition are also ongoing. Pediatric populations of particular interest include phenylketonuria, stroke related to sickle cell disease, traumatic brain injury, and prematurity

Dr. Jessica Cohen, M.D.
Dr. Cohen recently joined BioMarin; as an Associate Medical Director in Medical Affairs. She is the Medical Monitor responsible for the PKUDOS Registry as well as the medical director for clinical research being conducted on sapropterin. Dr. Cohen received her Medical Degree at the Universidad Central de Venezuela in 2001, she continued on with her training in the U.S. pursuing a residency in Pediatrics at Miami Children's Hospital and subspecializing in Medical Genetics at Mount Sinai School of Medicine in New York where she went on to stay as an attending physician. In her last couple of years as an Assistant Professor at Mount Sinai, Dr. Cohen was an attending physician for the Program for Inherited Metabolic Diseases at Mount Sinai Medical Center taking care of patients with a wide range of disorders including patients with phenylketonuria at all stages of life, including late treated patients. This program is one of the largest metabolic disease treatment programs in the country and is also a New York State Newborn Screening designated referral center for infants with inherited metabolic diseases, and the leading referral center in the region for the evaluation of patients with suspected inborn errors of metabolism.

Dr. Francjan J. van Spronsen, M.D., Ph.D.
Dr. Francjan J. van Spronsen received his MD in 1987. He combined research and clinical work for the section of metabolic diseases of the Beatrix Children’s Hospital of the Academic Hospital of Groningen till 1992, when he started his training to become a general pediatrician. He received his PhD in 1996 after defending his thesis entitled ’Phenylketonuria: implications of some biochemical and clinical findings‘. From 1997 till 1999 he was a general pediatrician and supervisor at two clinical units of the Beatrix Hospital in the University Hospital of Groningen and a consultant for neuromuscular diseases. From 1999 and onward, he joined the metabolic section as pediatrician treating patients from 0 to 70 years of age. From 2001 till 2007 he was coordinator of two different studies about medical students, and he now combines clinical experience with management on education of MD students, and chairing of the exam committee for MD students of the University of Groningen. At a national level, he is a member of the Dutch organization for physicians and biochemists working on metabolic diseases, and chairs the Advisory Committee on Neonatal Screening with respect to inherited metabolic diseases, and is a member of the Dutch Committee on Neonatal Screening. At an international level he is a member of the Society for the Study of Inborn Errors of Metabolism, he chairs the Scientific Advisory Board of the European Society of PKU and Allied Disorders, and chairs various European and international advisory boards and working groups on inborn errors of metabolism. His major research topics and peer reviewed papers are especially on metabolic and cerebral processes in inherited defects of amino acids (e.g. phenylketonuria, tyrosinemia type I).

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