Scientific Advisory Committee

Antonio Federico, MD

Dr. Federico is a Full professor of Neurology and Director Unit Clinical Neurology and Neurometabolic Diseases, Medical School, University of Siena, Siena, Italy, is Chairman of the Scientific Committee of the European Academy of Neurology and is President of Neuromediterraneum Forum, he is vice-Rector of the University of Siena, the Italian delegate at World Federation of Neurology and at the European Union of Specialists (Neurology Section). He is past-President of the Italian Society of Neurology, and Editor-in-Chief of Neurological Sciences, Springer Verlag. His biological training took place at the Centre de Neurochimie the CNRS in Strasbourg, under the direction of prof. Mandel. His neurological training took place in Naples, collaborating since student with prof. GC Guazzi, which followed after his transfer to Siena, and prof. V. Bonavita. Dr. Federico has served over 10 years as Chairman of the Section Neurometabolic Inherited Diseases of the European Federation of Neurological Societies, and four years as Chairman of the Panel Developmental Neurosciences of the EFNS. Dr. Federico is the author of over 500 publications including more than 200 reported by Medline.

Jan Gheuens, MD, PhD

Jan joined the Bill and Melinda Gates Foundation in 2007 as a Senior Program Officer for the Tuberculosis program. In his current role as Deputy Director of TB Drugs, he focuses on the development of new TB drugs. He came to the BMGF from Amgen, where he was Vice President, Global Development Operations, and R&D Japan. In this capacity, he enhanced Amgen’s global clinical trial capacity, added regional capabilities in Eastern Europe, Latin America and Asia, and managed a team accountable for the execution of clinical trials in over 35 countries. Prior to his 6 years at Amgen, Jan spent 10 years at Johnson and Johnson. He took on different product development, clinical development and medical affairs roles of increasing responsibility in Janssen Research Foundation and Janssen Pharmaceutica US, culminating as Vice President Medical Affairs. Before joining the biopharmaceutical sector, he was trained as a Neurologist in his native Belgium, did a postdoctoral fellowship in the NIH Intramural Program, was awarded a Ph.D. in Neuroimmunology, and served for 7 years on the faculty at the University Hospital of Antwerp.

Susan Hayflick, M.D.

Susan Hayflick, M.D., a medical and molecular geneticist, has dedicated her career to helping people affected by rare neurological diseases. As a physician and scientist, she works to improve lives every day while advancing therapeutics discovery and development. Sparked by early work with a small group of families in the Amish community, her primary focus has been on a group of ultra-rare conditions known as Neurodegeneration with Brain Iron Accumulation (NBIA), a term Hayflick coined. Her impact on this field extends from disease gene discovery to disease model development, from clinical trial readiness to advancing therapeutics. Through worldwide collaborations, her sustained efforts are leading to the first attempts to develop potential therapies for two NBIA disorders. Dr. Hayflick demonstrates her commitment to patients as a catalyst for the founding of the oldest and largest NBIA patient organization, established in 1994. Working closely with families and caring for their affected children, is a constant source of inspiration and conviction to advance treatments: “It feels like pressure,” Hayflick says. “It’s hard to go to family meetings every two years and not have a cure. That feels like failure.”

Susan Hayflick took her MD at the Pennsylvania State University College of Medicine and completed a postdoctoral fellowship in medical genetics at the Center for Medical Genetics at Johns Hopkins Hospital. Joining Oregon Health & Science University in 1993, Dr. Hayflick is a professor of Molecular & Medical Genetics, Pediatrics, and Neurology at OHSU and is chair for the Department of Molecular & Medical Genetics. Dr. Hayflick serves as a Director on the Scientific and Medical Advisory Boards for the NBIA Alliance and NBIA Disorders Association. She has also served as Program Chair and Meeting Organizer for the International NBIA symposia. She is a current member of the Medical Advisory Board for the German NBIA advocacy group, Hoffnungsbaum e.V.

James Lupski, MD, PhD

Dr. Lupski is a Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics at Baylor College of Medicine in Houston since 1995. He obtained his BA degree from New York University in 1979 and his PhD and MD degrees in 1984 and 1985, respectively, from the same institution. In 2011 he was awarded a DSc (honoris causa) from the Watson School of Biological Sciences at the Cold Spring Harbor Laboratory for his work on genomic disorders and clinical genomics. Dr. Lupski serves on the Board of Directors of LaserGen, Inc. and is a member of Scientific Advisory Board of Regeneron Genetics and the Weatherall Institute of Molecular Medicine of Oxford University. He has coauthored over 650 scientific publications, is an inventor on more than 20 patents and has delivered over 500 invited lectures in 37 countries. Dr. Lupski is a Fellow of the American Association for the Advancement of Science (1996). He was elected to the Institute of Medicine of the National Academies of Science (2002) and to the American Academy of Arts and Sciences (2013) and recently received the 2014 Environmental Mutagenesis and Genomics Society Award. Dr. Lupski has researched CMT disease for more than 30 years, motivated in part by a desire to find a genetic cause of his own CMT.

Lynne Fahey McGrath, PhD MPH

Dr. McGrath has scientific background in Biology, Chemistry and Environmental Science. She obtained her PhD and MPH in Public Health from the University of Medicine and Dentistry of New Jersey (UMDNJ) – Robert Wood Johnson Medical School. She was also recognized as a Rutgers Scholar. Dr. McGrath has worked in regulatory affairs for over 30 years over a number of pharmaceutical companies. She has been a member of corporate monoclonal antibody development strategy (Schering Business Excellence Award). She has led regulatory affairs global teams for Oncology (11 yrs., Novartis, Pharmacia), CV, Endocrine, Urology, and Neurology products from early development through registration and commercialization. Successful registrations of over 50 NMEs/major variations in US, EU (Centralized, MRP, DCP process), and Japan, with >100 HA meetings worldwide. She has provided leadership for 5 FDA Advisory Committees and 4 CHMP Oral Explanations and has led a team of 250+ regulatory, safety & medical affairs associates globally. She has also managed both Health Authority and legal challenges to product safety.

Wim Robberecht, MD, PhD

Dr. Robberecht graduated as an MD at the University of Leuven (KU Leuven) in 1984 and trained as a neurologist at the University Hospital Leuven, the University Medical Center of the University of Virginia, Charlottesville, Virginia and the Massachusetts General Hospital, Harvard University, Boston, Massachusetts. He obtained a PhD in the Laboratory for Cell Pharmacology of the University of Leuven, being a fellow of the Research Fund Flanders (FWO Vlaanderen), and did a postdoc in the Cecil Day Laboratory for Neuromuscular Disease of the Massachusetts General Hospital, Boston (directed by Dr. RH Brown). In 1992, Dr. Robberecht was appointed assistant Professor at the University of Leuven and joined the department of Neurology at the University Hospital Leuven. He founded the laboratory for Neurobiology at the University of Leuven and became Clinical Investigator of the FWO Vlaanderen. In 1994 he became associate Professor and in 1997 Professor at the University of Leuven. He was appointed director of the Neuromuscular Reference Center of the University Hospital in Leuven in 1999. In 2001, Dr. Robberecht became full Professor and Chairman of the department of Neurology at the University Hospital Leuven. In 2007, he was appointed group leader in the Vesalius Research Center, VIB, Leuven. In 2013, he started a term as Chairman of the Biomedical Sciences and vice rector of the University of Leuven. In 2016, Dr. Robberecht became Chairman of the Board of the University Hospital Leuven. The focus of Dr. Robberecht’s research interest is the mechanism and treatment of motor neuron degeneration such as seen in amyotrophic lateral sclerosis (ALS) and frontotemporal lobe degeneration (FTLD). His research is both basic and clinical. In his laboratory, cellular, fish and rodent models are used to study this disease. In addition, through his clinical work, he contributes to the genetics and the development of treatments for this fatal disease. Dr. Robberecht is the chairman of the scientific advisory board of the Thierry Latran Foundation for ALS research and member of the executive board of the European Network for the Cure of ALS (ENCALS). He received the Sheila Essey Award for ALS research from the American Academy of Neurology in 2008 and the 2010 Chair of the Franqui Foundation, Belgium. In 2014 he received an award of the Medical Foundation Queen Elisabeth, and was awarded an ERC advanced grant.

David Spencer, PhD – CSO, BioPontis Alliance for Rare Diseases

Dr. Spencer is Chief Scientific Officer of BioPontis Alliance for Rare Disease, where he is responsible for drug discovery and development programs in neurological rare diseases. He has 30 years of experience in both large pharmaceutical and small biotech environments, where he has directly managed discovery, non-clinical (CMC) development, clinical development, regulatory, manufacturing, QA/QC and marketing disciplines. Prior to his current role, he was Chief Operating Officer and Chief Scientific Officer of Proteovec LLC, a company specializing in novel protein expression and purification technologies. From 2001 to 2012, he was Chief Operating Officer and SVP of R&D of Biolex Therapeutics, a venture-funded biotechnology company. Prior to Biolex, David was VP of Plasma Products Lifecycle Management and led global clinical development for Bayer’s Biological Products division in immunology, neurology, hematology, respiratory and critical care therapeutic areas. Earlier, he held leadership roles in central nervous system drug discovery, project management and commercial evaluation of cardiovascular pipeline products at Bayer AG in Germany. In addition to his duties at BioPontis, he also leads Biotechnology Enterprise Management, a biotechnology consultancy.

Warren Strittmatter, MD – Director, BioPontis Alliance for Rare Diseases

Dr. Strittmatter retired in 2014 as Professor and Chief, Division of Neurology, Department of Medicine at Duke University School of Medicine. At Duke he also served as Chief, Pediatric Neurology and Professor in Neurobiology. He received his medical degree and neurology training at Duke University. He worked at the NIH from 1977 to 1979 before returning to Duke. Dr. Strittmatter has been a critical opinion leader in the clinical research for treatments for Alzheimers and rare neurodegenerative diseases, named by ISI as “Top 20 Scientists in Neuroscience and Behavior” 1992-2002. He leads on the Board in all aspects of neurological rare disease drug discovery.

Huda Zoghbi, MD

Dr. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. After her 1999 discovery of the gene responsible for Rett Syndrome and following explorations of the disease’s mechanism, she has been elected to the National Academy of Sciences, the Institute of Medicine, and the American Association for the Advancement of Science. She is also an investigator at the Howard Hughes Medical Institute and the director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital. She has been named an honorary doctor of medical sciences by Yale University and was conferred honorary doctorates of science from Meharry Medical School, and Middlebury College. She has earned numerous other awards for her work, listed below are some selected ones:

  • Shaw Prize in Medicine, 2016 (together with Adrian P. Bird)
  • Edward M. Scolnick Prize in Neuroscience, 2014
  • March of Dimes Prize in Developmental Biology, 2014
  • Dickson Prize in Medicine, 2013
  • Gruber Prize in Neuroscience, 2011