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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.

NDF Scientific Advisory Committee Members

Dr. Carmen Bertoni

Dr. Carmen Bertoni is an 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.


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).


John Hakimi

John Hakimi 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. Andreas Kogelnik

Andreas Kogelnik, MD, PhD, is the Director of the Open Medicine Institute.  He completed his MD at Emory University School of Medicine and his PhD in Bioengineering at Georgia Tech.  He trained as a resident in Internal Medicine and fellow in Infectious Diseases at Stanford University and remained there as a post-doc and research faculty before founding the Clinic in 2009 and Institute in 2011.


Dr. Siavash Kurdistani

Siavash K. Kurdistani, MD, is a Professor in the Department of Biological Chemistry with a secondary appointment in the Department of Pathology and Laboratory Medicine at UCLA. He is the Co-Director of the UCLA-Caltech MSTP program, a combined MD and PhD training track for students seeking to become physician-scientists. Dr. Kurdistani is also the Associate Director of the Gene Regulation Program Area within the Jonsson Comprehensive Cancer Center. He is also a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research. Dr. Kurdistani received his B.S. degree in Biochemistry from UCLA in 1994 and his M.D. from Harvard Medical School in 1999.


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, Orthopaedic 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.