Scientific & Clinical Advisors

  • Professor Nenad Blau was a head of the laboratory for the diagnosis of tetrahydrobiopterin and neurotransmitter disorders at the University Children’s Hospital in Zürich, Switzerland until November 2011 and is now affiliated with the Division of Metabolism in Zürich. He is a senior lecturer in biochemistry and metabolic disorders at the University of Zürich and author of more than 300 research publications, including such standards as “Physician’s Guide to the Laboratory Diagnosis of Metabolic Disease”, “Physician’s Guide to the Treatment and Follow-up of Metabolic Disease”, and “Laboratory Guide to the Methods in Biochemical Genetics”. His research group discovered several new inborn errors of metabolism, including GTP cyclohydrolase deficiency, pterin-carbinolamine dehydratase deficiency, and sepiapterin reductase deficiency and established database for pediatric neurotransmitter disorders. Professor Blau is an honorary member of the Italian Society for Pediatrics. For his research in the field of tetrahydrobiopterin and phenylketonuria he received in 2001 the Horst­ Bickel-Award, in 2005 the Gowland Hopkins Award, and in 2011 he was honored by Asbjørn Følling award. Professor Blau is currently Senior Consultant in Biochemical Genetics at the Children’s Hospital in Heidelberg, Germany.

  • Dr. Hyland is an internationally recognized researcher and educator in clinical chemistry, child neurology and inherited metabolic disorders. In a career spanning 35 years, he has led numerous grant funded research teams in the UK and US in the study of inherited disease and the neuroprotective molecular medicines used to treat them. He is a leading expert in the area of inherited disorders affecting serotonin, catecholamine, folate and pyridoxal phosphate metabolism. In 1989 Dr. Hyland moved from the Institute of Child Health in London to the Baylor Research Institute in Dallas, Texas. During his time in Texas he held the positions of Senior Research Scientist at the Baylor Research Institute, Adjunct professor of Neurology at the University of Texas, Southwestern Medical Center and Professor of Biomedical Sciences at Baylor University.  In 2004 he moved to Atlanta to join Horizon Molecular Medicine which eventually became Medical Neurogenetics LLC in 2008. As the author of almost 90 presentations to the medical community and over 130 peer reviewed publications, Dr. Hyland actively participates in the continuing education and shared scholarship of his field. He has supervised numerous PhD candidates and post-doctoral fellows in their research and maintains professional membership in societies relevant to his work. Dr. Hyland has been honored several times for his work in the area of Neurometabolic Disease, including the Noel Raine Award from the Society for the Study of Inborn Errors of Metabolism, in both 1989 and 1998.

  • Professor Jonathan W. Mink is chief of child neurology, vice chair of neurology and a professor in the Neurology, Neurobiology & Anatomy, Brain & Cognitive Sciences and Pediatrics Departments at the University of Rochester Medical Center, N.Y. His research focuses on the function of the basal ganglia to select desired movement patterns, movement disorders and pediatric neurodegenerative diseases. He has received numerous awards recognizing his achievements in clinical practice, the laboratory, and as a mentor. Dr. Mink earned a B.A. in biology-psychology from Wesleyan University, Middletown, Conn., and an M.D. and Ph.D. in Neuroscience from Washington University.

  • Professor Hasegawa worked at the Department of Biosciences, Teikyo University of Science and Technology. He is currently a Research Associate, Department of Anatomy, Nihon University, School of Dentistry.  He is an expert on the pharmacodynamics of exogenously administered BH4 and its precursors and stimulation of monoamine biosynthesis by means of peripheral administration of Bh4 precursors. For over 40 years, he devoted in basic research on BH4 and its role in serotonin biosynthesis.  It includes enzymology of TPH, serotonin biosynthesis enzyme using BH4 as the coenzyme, and transport of BH4 and its precursors across biological membranes between cells, tissues and organs such as the brain. His milestone contributions to the research fields could be counted as 1) establishment of high sensitivity DHPR assay method using cytochrome-c,  2) determination of 6R-diastereomer of BH4 as the natural form of BH4 enabling it to use as supplement for its deficiency and triggering BH4 manufacturing and 3) use of Bh4 precursors as the best efficient form of BH4 supplementation.

  • Dr. Haffner is founder of Haffner Associates http://www.mhaffner.com, a firm dedicated to the field of rare and orphan diseases.  She is the former Director of the Office of Orphan Products Development at the Food and Drug Administration (FDA) and since 2009 has been the CEO of her own firm.  A graduate of the George Washington University School of Medicine, she trained in Internal Medicine, Dermatology and Hematology.  Dr. Haffner is the recipient of numerous professional governmental awards and honors as well as academic awards. She received the Outstanding Government Service Award from the John Hopkins University, Bloomberg School of Public Health.  A career Public Health Service Officer, Dr. Haffner rose to the rank of Rear Admiral in the US Public Health Service (USPHS).  For 20 years, Dr. Haffner directed the Office of Orphan Products Development at the FDA, becoming one of the world’s experts on the research, development, and approval of designated orphan drugs and products for people suffering from rare diseases.  On retiring from the USPHS in 2007, Dr. Haffner served as the executive director, global regulatory affairs and policy for Amgen, Inc, following which she founded her own firm.  Having worked as a physician for both the FDA, and for a pharmaceutical company, she has a uniquely broad perspective on the subject of developing therapies for rare disorders.  Currently, as a consultant, Dr. Haffner works with organizations regarding rare diseases to help them form constructive partnerships with researchers and pharmaceuticals to create and approve drugs for their condition. She is an adjunct Professor in the Department of Medicine and the Department of Preventive Medicine and Biometrics at the F. Edward Hébert School of Medicine, Uniformed Services University of Health Sciences (USUHS).  She is a celebrated speaker throughout the world and has given almost 300 presentations during her distinguished career.

  • Dr. Swiedler is a biotechnology consultant with more than 25 years of experience in the biotechnology field, primarily as a scientist and junior executive at Glycomed, Inc., and as a clinical scientist and senior executive at BioMarin Pharmaceutical, Inc. Over a 10-year period at BioMarin, he contributed to both the non-clinical and clinical aspects of drug development for the regulatory approvals of the orphan drugs Aldurazyme, Naglazyme and Kuvan. He continues to focus on orphan drug products for genetic diseases, working with both biotech companies and investment firms. Dr. Swiedler received his BS degree from the University at Albany, and his M.D. and Ph.D. degrees from the Johns Hopkins University. He completed residency in Anatomic Pathology at Yale University School of Medicine and Duke University School of Medicine, as well as a post-doctoral fellowship at Duke.

  • Professor Kathryn J. Swoboda is a neurologist and geneticist at the Massachusetts General Hospital with particular expertise in motor disorders with childhood onset. She is the Katherine B. Sims MD Endowed Chair in Neurogenetics, the Director of the Neurogenetics Program and the Co-Director of MGH Neurogenetics Diagnostic Laboratory. Prior to MGH Kathy was an Associate Professor of Neurology and Pediatrics and the Director of Pediatric Motor Disorders Research Program at the University of Utah. Her primary research efforts include genotype/phenotype studies targeting the underlying molecular disease pathogenesis, biomarker development and treatment of inherited motor disorders. She has directed or collaborated in numerous clinical trials and studies in children and adults with spinal muscular atrophy(SMA), alternating hemiplegia of childhood (AHC),inherited disorders of neurotransmitter biosynthesis and metabolism (Segawa disease, DHPR and PTPS deficiency), and other disorders, including childhood-onset ataxias and neurodegenerative disorders. She is actively engaged in pilot initiatives to support newborn screening for neurodegenerative disorders with onset in infancy or childhood, including SMA, Pompe and other rare neurologic disorders. She has received funding from the National Institutes of Child Health and Development, the National Institutes of Neurologic Disease and Stroke, Families of SMA, Fight SMA, the Muscular Dystrophy Association, the SMA Foundation, the Pediatric Neurotransmitter Disorder Foundation, and the Alternating Hemiplegia of Childhood Foundation. 
  • Dr. Huertas has been active in the pharmaceutical industry for nearly 20 years and is experienced in research, development, medical affairs, and regulatory affairs concerning therapeutics for human genetic and metabolic diseases. Pedro is the CMO of Eloxx Pharmaceuticals, the former Clinical Lead of Precision Medicine as the Head of Precision Medicine for Rare Diseases at Pfizer Worldwide Research & Development. Dr. Huertas has extensive experience dealing with and participating in negotiations with regulatory authorities in the US (FDA), EU (EMA), Japan (PMDA), and throughout Latin America. He led the clinical team that filed for approval of and registered Fabrazyme (agalsidase beta) in the United States, Europe, and Japan. Dr. Huertas is a graduate of Stanford University (MS, Biochemistry), Harvard University (PhD, Cell and Developmental Biology), the Program in Health Sciences and Technology between Harvard Medical School and the Massachusetts Institute of Technology (MD), and the Sloan School of Management at the Massachusetts Institute of Technology (MS, Management). He trained in Internal Medicine, Rheumatology, and Palliative Care at Massachusetts General Hospital.