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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.

 

Dr. Nuria Carrillo Chair, Scientific Advisory Committee

Recognized as an expert in GNE myopathy and a physician-scientist dedicated to advancing therapies for rare diseases, Dr. Carrillo brings to NDF her vision, experience, and unwavering commitment to patients with GNEM.

Early in her career, Dr. Carrillo studied gene therapy in mouse models of rare genetic diseases. Over the last decade, she has focused her research on GNEM, including as Principal Investigator for several clinical studies at the National Institutes of Health (NIH). Her approach has included the delineation of the natural history of the disease, the use of disease progression models, and tailored clinical trial designs to facilitate the development of therapies for GNEM. Her work has produced several peer-reviewed publications, book chapters, awards, and invitations to present at national and international conferences. Dr. Carrillo has served as the Section Editor for Orphan Drugs for the Orphanet Journal of Rare Diseases, and as a reviewer for numerous medical journals.

Dr. Carrillo is board-certified in Pediatrics, Medical Genetics, and Biochemical Genetics. She earned her M.D. from the National Autonomous University of Mexico (UNAM) graduating cum laude and receiving a scholarship for biomedical research. After her residency in pediatrics at Georgetown University, she completed both Medical Genetics and Biochemical Genetics fellowships at the NIH and Children's National Medical Center combined program, for which she served as faculty until 2018. Among her accomplishments, Dr. Carrillo has received two NIH Director's Awards and the Emmanuel Shapira Award from the Society of Inherited Metabolic Disorders.

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 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

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. Rüdiger Horstkorte

Dr. Horstkorte is Professor for Physiological Chemistry at the Medical School of the Martin-Luther-University in Halle.

Dr.  Horstkorte graduated in Biology at the University of Heidelberg and finished his training with a doctoral degree at the Swiss Federal Institute of Technology (ETH) in Neurobiology. He was working for many years at the Charité in Berlin, where he generated a GNE knockout mouse.

He is the former spokesperson of the German Glycobiology Section of the German Society for Biochemistry and Molecular Biology (GBM) and is the German national representative of the International Glycoconjugate Organization (IGO).

His main research and academic fields of interests are: Sialic acids and posttranslational modifications, GNE myopathy, cell adhesion molecules and molecular aging.


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 Co-President 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

Perry Shieh, M.D., Ph.D. is a neurophysiologist and specializes 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.