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. 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.

Dr. Rodney Howell, MD
Dr. Howell is the Professor of Pediatrics and Chairman Emeritus, at the Miller School of Medicine of the University of Miami. He is certified by the American Board of Pediatrics and by the American Board of Medical Genetics in the area of Clinical Biochemical Genetics. Following service as the Joseph P. Kennedy Scholar in Mental Retardation, while a faculty member of the Johns Hopkins University School of Medicine, Dr. Howell became David R. Park Professor and Chairman of Pediatrics at the University of Texas Medical School at Houston.

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 the Director of the Metabolism Program, Division of Medical Genetics at Children's Hospital of Pittsburgh of UPMC in Pittsburgh, PA. 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. Denise M. Ney, PhD, RD
Dr. Denise M. Ney is a Professor of Nutritional Sciences and a Waisman Center investigator at the University of Wisconsin-Madison.  She is a RD and completed a MS studying genetic metabolic disorders with Dr. William Nyhan at the University of California-San Diego in 1982. Dr. Ney received a PhD in nutrition from the University of California-Davis and joined the faculty at the University of Wisconsin-Madison in 1986. Denise’s research program addresses gastrointestinal physiology and the nutritional management of phenylketonuria (PKU).  The PKU research has resulted in a new option for the nutritional management of PKU using glycomacropeptide (GMP), a protein found in cheese whey that is naturally low in phenylalanine. Dr. Ney directs a clinical trial funded by the FDA to compare the efficacy of the GMP and amino acid diets in PKU subjects living at home. The etiology of osteopenia in PKU is being studied in her laboratory using PKU mice fed GMP or amino acid diets, as previously supported by a NPKUA research grant. Dr. Ney received the 2012 Spitze Land Grant Faculty Award for Excellence in recognition of her breadth of teaching achievements and the relevance and impact of her research. She was also recognized as a Rare Disease Hero by the FDA in honor of the 30th anniversary of the Orphan Drug Act in 2013.

DR. Erin MacLeod, PHD, RD, LD
Dr. Macleod received her PhD from the University of Wisconsin Madison in 2010 where her primary research focus was the nutritional management of PKU. She participated in the clinical trials for glycomacropeptide and conducted a study to examine the change in phenylalanine tolerance in adults with PKU. Since that time she has been the Director of Metabolic Nutrition in the Division of Genetics and Metabolism at Children’s National Health System in Washington DC.  In her current position Erin is part of an experienced clinical team who manage over 400 patients with inborn errors of metabolism and participate in a variety of clinical research projects. 

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).

DR. Ira J. Fox, MD
Dr. Fox is a Professor of Surgery and Pediatric Transplantation at the University of Pittsburgh School of Medicine.  He is a graduate of Harvard College and the Columbia University College of Physicians and Surgeons. Dr. Fox did a research fellowship in Immunology with Baruj Benacerraf at Harvard Medical School and a surgical transplant fellowship with Dr. Thomas Starzl at the University of Pittsburgh. Prior to moving back to Pittsburgh in 2008, Dr. Fox was Senior Associate Dean for Research and MD-PhD Program Director at the University of Nebraska Medical Center. His major research interests involve the study of experimental therapies for treating patients with liver disease. He has initiated clinical trials involving extracorporeal human and pig liver perfusion to treat patients with acute liver failure, and has demonstrated successful correction of liver-based metabolic deficiencies in newborns and young children by transplantation of isolated liver cells. His work has been continuously supported by grants from the NIH and the DoD for over 20 years.

Dr. Christineh N. Sarkissian, PhD
Dr. Sarkissian (2000; McGill University, Canada), is a research scientist working for over twenty years in industry, academia, and the nonprofit sectors, with a distinguished record of drug discovery and translation, education, commercialization, directing global multi-centered collaborative research, and creating sustainable global health initiatives. Best known for her drug development efforts on Pegvaliase (PEG-PAL), an enzyme substitution therapy for the treatment of phenylketonuria, she has since spent many years as a faculty member at McGill University and has of late joined a startup biotech company, Rubius Therapeutics Inc.  Dr. Sarkissian is an authority in her expanding research efforts. She is a highly-published author, and the recipient of multiple awards. Her efforts have been recognized repeatedly in the media and her reputation continues to grow as a coveted speaker and key opinion leader for companies focusing on developing therapies for rare disorders. As part of her community service, Dr. Sarkissian serves as a board member and scientific adviser for a number of medical associations and as a reviewer for major journals and funding agencies including the NIH. She is involved in the development of national treatment guidelines and participates in outreach community clinics.