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Scientific Advisory Committee

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. The 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. NDF's 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 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.

Professor 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 an MDA Fellowship in Biochemistry and Biophysics Laboratory of the University of Pennsylvania, Philadelphia (USA).

Professor 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.

Professor 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. Bertoni is an expert on the field of neuromuscular disorders and,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 developed non-viral mediated gene therapies for muscular dystrophies pioneering gene correction strategies using oligonucleotides. While at UCLA she 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. Alok Bhattacharya

Dr. Bhattacharya obtained his Ph.D. degree from India and received further training at National Cancer Institute, NIH and Harvard Medical School. He then returned to India and was a professor of Biology and Bioinformatics at Jawaharlal Nehru University, New Delhi. Currently, he is a professor and chairman of the Department of Biology at Ashoka University, Haryana. He was also vice president of Indian National Science Academy. His research interests are parasite biology and computation genomics & biology. He is also Managing Trustee of World Without GNE Myopathy, an organization with its main interest in finding a cure for GNE myopathy.  His group is working with scientists to develop research consortium on GNE myopathy.    


Dr. Kelly Crowe

Dr. Crowe is an Assistant Professor in the Department of Biology at Mount St. Joseph University in Cincinnati, OH. 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 the use of in vitro models to develop biomarkers for assessment of gene therapy in 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

Dr. Grody 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

Dr. 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 with 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. Angela Lek

Dr. Lek is an Associate Research Scientist at Yale University with extensive experience in elucidating the molecular mechanisms of neuromuscular diseases. She completed her PhD at 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. 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. Perry Shieh

Dr. Shieh is a neurophysiologist specializing in clinical neurophysiology, neurology, and more. He is currently working as an Associate Professor and is the Director of the Neuromuscular Program, Neurology at UCLA Medical Center. He has also worked as a Clinical Neurophysiologist at Brigham & Women’s Hospital. He specializes in neurology, neuromuscular medicine, clinical neurophysiology, electromyography, and muscle disease.