NDF relies on its esteemed Scientific Advisory Committee (SAC) to provide guidance and recommendations to its Board of Directors in its selection of the most promising research projects for funding. SAC’s input, as an objective group of world-renowned professionals, is critical to NDF’s ability to review grant proposals and make funding determinations. SAC ensures that the money raised by donors is funded to scientists whose work is likely to have the greatest impact on GNE Myopathy research. We are proud of the of accomplished professionals we have the privilege to work with and are grateful for their contribution to our endeavors.
Dr. Zohar Argov
Dr Argov is Professor ( Emeritus) of Neurology at the Hadassah-Hebrew University School of Medicine in Jerusalem, Israel and an Adjunct Professor at the Department of Neurology/Neurosurgery at the Montreal Neurological Institute, Montreal, Canada. He also serves as a Member of the Neuromuscular Panel at the European Academy of Neurology and an Honorary member of this organization.
Prof Argov graduated from the Hebrew University- Hadassah Medical School and finished his training in Neurology at the same Institute. He had two fellowships: A WHO Neuromuscular Fellowship at the Muscular Dystrophy Laboratory in Newcastle upon Tyne (UK) and MDA Fellowship in Biochemistry and Biophysics Laboratory of the University of Pennsylvania, Philadelphia (USA).
Prof Argov was a President of the European Neurological Society (ENS) and Chairman of its Muscle and Neuromuscular Disorders subcommittee. He was also a member of the Executive committee of the World Muscle Society and the ENS.
Prof Argov was a Chief Medical Officer and later a Special Medical Advisor to the CEO of BioBlast Pharma and an Ad Hoc consultant of Ultragenyx Pharmaceutical .
His main research and academic fields of interests are: GNE myopathy, clusters of hereditary neuromuscular disorders, iatrogenic neuromuscular disorders and metabolic myopathies.
Dr. Carmen Bertoni
Dr. Carmen Bertoni is an expert on the field of neuromuscular disorders in particular gene therapy. She is a former Associate Professor in the Department of Neurology at UCLA. She received her BS from the University of Perugia, Italy and earned her Ph.D. from the same university after completing her graduate program at Tulane as an exchange student. During her postdoctoral fellowship at Stanford she has developed non-viral mediated gene therapies for muscular dystrophies pioneering gene correction strategies using oligonucleotides. While at UCLA she has developed several novel approaches to the treatment of neuromuscular diseases. She has discovered and patented new molecules for the treatment of certain types of neuromuscular diseases along with other genetic disorders. She currently serves as a consultant for pharmaceutical companies and venture capital firms.
Dr. Kelly Crowe
Dr. Crowe is an assistant professor in the Department of Biology. She holds a Ph.D. in Molecular, Cellular, and Developmental Biology from The Ohio State University as well as an M.S. in Biology from Missouri State University and a B.A. in Biology and Psychology from Drury University. Her research interests include utilization of cell culture models to understand physiological processes relevant to muscle diseases such as GNE myopathy.
Dr. Crowe also enjoys working with students to develop science outreach programs with the goal of making biology accessible and engaging to the public.
Dr. Wayne Grody
Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, one of the first such facilities in the country to offer DNA-based tests for diagnosis of a wide variety of genetic, infectious, and neoplastic diseases, as well as bone marrow engraftment, patient specimen identification and paternity testing by DNA fingerprinting. He is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).
Dr. John Hakimi
John Hakimi earned his PhD at the University of Rochester Medical School. He is a former pharmaceutical executive with extensive experience in Pharma R&D and business. He has strong leadership and broad therapeutic experience in project and lifecycle management. John is currently a Consultant with Sage BioConsulting in New York, John Hakimi has over 25 years of experience in pharmaceutical research and development. He is currently involved in raising community awareness and scientific understanding of GNE Myopathy and other rare diseases.
Dr. Madhuri Hedge
Dr. Hegde currently serves as Vice President and Chief Scientific Officer, Global Genetics Laboratory Services for PerkinElmer. She also is an Adjunct Professor of Human Genetics in the Department of Human Genetics at Emory University. Previously, Dr. Hegde was Executive Director and Chief Scientific Officer at Emory Genetics Laboratory in Atlanta, GA and Professor of Human Genetics and Pediatrics at Emory University and Assistant Professor, Department of Human Genetics and Senior Director at Baylor College of Medicine in Houston, TX.
She earned her PhD in Applied Biology from the University of Auckland in Auckland, New Zealand and completed her Postdoctoral Fellowship in Molecular Genetics at Baylor College of Medicine in Houston, TX. She also holds a Master of Science in Microbiology from the University of Mumbai in India. She has authored more than 100 peer-reviewed publications and has given more than 100 keynote and invited presentations at major national and internal conferences.
Dr. Angela Lek
Angela Lek is an Associate Research Scientist at Yale University with extensive experience in elucidating the molecular mechanisms of neuromuscular diseases. She completed her PhD in the University of Sydney studying Limb Girdle Muscular Dystrophy, and her postdoctoral training at Boston Children’s Hospital and Harvard Medical School studying Facioscapulohumeral Dystrophy. Her research focus includes genetics and translational research, specifically using patient cells for gene editing and drug screening. In addition to her day job in the lab, Angela is also a full-time caretaker for her husband who has been diagnosed with a neuromuscular disease, and she is also passionate about patient advocacy and scientific communication to the patient community.
Dr. Monkol Lek
Dr. Lek received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.
Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he lead the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery. He is currently an Assistant Professor and Research Group Leader at The Yale School of Medicine's Department of Genetics.
Dr. Tahseen Mozaffar
Dr. Tahseen Mozaffar is a Professor of Neurology, Orthopedic Surgery and Pathology and Interim Chair of the Department of Neurology at University of California, Irvine. He is the Director of the UC Irvine-MDA ALS and Neuromuscular Center and the Director of the UC Irvine Neuromuscular Program. He is the immediate past Chair of the Neuromuscular Section at the American Academy of Neurology as well as immediate past Chair of the Medical Advisory Board of the Myositis Association. Additionally, Dr. Mozaffar serves as chair of one of the biomedical committees and chairs the compliance committee for the Institutional Research Board and the institutional liaison for Trials Innovation Hub for the Center for Translational Sciences Award (CTSA) at University of California, Irvine.
Dr. Laura Rufibach
Dr. Rufibach earned her Ph.D. in Molecular and Human Genetics from Baylor College of Medicine, where she studied genotype/phenotype correlations and identified new disease genes for a form of peripheral neuropathy. Her postdoctoral research at the University of Washington centered on the identification of structure/function relationships in dystrophin and how that information could be used to construct mini-dystrophin vectors for use in gene therapy in Duchenne muscular dystrophy.
Dr. Rufibach is a senior member of the Jain Foundation Scientific Advisory Board, which is responsible for implementing the strategic goals of the foundation, identifying the most pressing scientific questions in the dysferlin field, designing experiments to address these questions, identifying and soliciting proposals from laboratories with the expertise to perform these experiments, actively monitoring the progress of funded projects, and fostering collaborations between previously isolated researchers. In addition to her role on the advisory board, Dr. Rufibach oversees the foundation’s patient and physician outreach efforts, implements the foundation’s legal requirements, and leads the foundation's clinical efforts, including directing the upcoming clinical outcome study of dysferlinopathy and determining the best therapeutic candidates for clinical trials.
Dr. Kathy Shenassa
Kathy Shenassa, is currently the Scientific Programs Coordinator for the Center for the Study of Parkinson’s Disease. Her team examines the effects of genes, environment and their interaction on PD risk, as well as working with pharmaceutical companies in testing new therapies that can help patient. Prior to her involvement with the CSPD, she worked as an associate at Spencer Stuart Dr. Shenassa did her undergraduate study at UCLA, focusing on Psychobiology, and went on to pursue her PhD in Neuroscience at UCLA as well.