We rely on our esteemed Scientific Advisory Committee (SAC) to provide guidance and recommendations to our Board of Directors. As an objective group of world-renowned professionals, the SAC’s work is critical to our ability to review grant proposals and make funding determinations. The SAC ensures that money raised by donors goes to scientists whose work is likely to have the greatest impact on GNE Myopathy research. We are proud of the accomplished professionals with whom we work 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, in Montreal, Canada. He also serves as a member of the Neuromuscular Panel at the European Academy of Neurology.
Professor Argov has been granted numerous fellowships, and was a president of the European Neurological Society, as well as Chairman of its Muscle and Neuromuscular Disorders Subcommittee. His main research and academic interests are in GNE Myopathy, clusters of hereditary neuromuscular disorders, iatrogenic neuromuscular disorders, and metabolic myopathies.
Dr. Yael Gruenbaum-Cohen
With 15 years of global experience in the Healthcare space, Dr. Gruenbaum-Cohen’s professional journey as a HealthTech licensee and investor is underlined by a patient-centric drive for success. Committed to building companies and bringing novel medical products to market, she believes that through strategic deals and investments, she’d be able to transform and improve the lives of patients. As General Manager of Medison Ventures, she has carried out over 20 licensing deals, led scouting initiatives for over 15 companies, collaborated with academia and the biotech industry, and led series A, B, and C investment rounds focused primarily on orphan drugs and genetic diseases. Harnessing her entrepreneurial skills and strong executive and mentoring abilities, she has led and maintained strong international collaborations and effective teamwork across functions and companies. She also co-founded Andlit Therapeutics – a biotech company developing an ASO treatment for Bain’s disease and PCDH19, and WE@HealthTech – a collaboration with 8400 to develop female leadership talent in HealthTech. She currently also serves on the Boards of several biotech companies in the rare disease field.
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 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 at 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.
Dr. Stephan Hinderlich
Dr. Stephan Hinderlich is a Professor for Biochemistry at the Beuth University of Applied Sciences in Berlin. He has graduated in Biochemistry at the Free University of Berlin. His PhD was completed at the Charité – University Medicine Berlin, followed by many years as a group leader. During these years Dr. Hinderlich´s research focused on the biochemistry of GNE. Among others he discovered the bifunctional features of GNE, and characterized many GNEM mutants.
By moving to the Beuth University, his research was expanded to biotechnological aspects of glycobiology. Presently, he is the vice chairman of the Glyconet Berlin-Brandenburg. One of his further main interests is the teaching of young scientists in glycobiology, including glyco-related 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
Dr. Angela Lek is VP of research at the Muscular Dystrophy Association. She has extensive experience in elucidating the molecular mechanisms of neuromuscular diseases. Dr. Lek 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 work at MDA involves developing a framework to accelerate the translation of gene therapies for ultra rare diseases. In addition to her day job, Angela is also a full-time carer 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. Monkol 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) receiving 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 led 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. Stella Mitrani-Rosenbaum
Stella Mitrani-Rosenbaum received her PhD in Microbiology from the Hebrew University of Jerusalem. She conducted her postdoctoral studies at the National Institutes of Health and joined the Department of Virology at the Faculty of Medicine of the Hebrew University of Jerusalem, where she conducted research on DNA tumor viruses.
After a sabbatical year at the Genetics Department at Harvard, she joined the Goldyne Savad Institute of Gene Therapy at Hadassah- The Hebrew University Medical Center as a full professor and focused her interest in genetics and muscle diseases. Her team has identified GNE as the mutated gene in the disease. Since then and till now, as professor emerita, she has dedicated her research to GNE Myopathy, with numerous peer-reviewed publications and book chapters on the subject. Her studies have been supported by the Israel Science Foundation (ISF), the German Israeli Fund (GIF), Association Francaise contre les Myopathies (AFM), Kamin grant of the Chief Scientist, Israeli Ministry of Industry, and others.
In the last several years she is also supported by the NDF. Professor Mitrani-Rosenbaum was member of the Hadassah Committee for Research. and serves on scientific advisory panels for the ISF and GIF. Additionally, she has served as the Head of the Ethics Committee for Animal Care and Use at the Hebrew University (Faculty of Medicine, School of Pharmacy, Faculty of Dentistry, School of Public Health, School of Veterinarian studies, Hadassah Hospital, Shaarei Zedek Hospital, Kaplan Hospital).
Dr. Laura Rufibach
Dr. Laura 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 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
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
Dr. Noah Weisleder
Noah Weisleder received his B.S. in Biotechnology from Worcester Polytechnic Institute and a Ph.D. in Cell Biology from Baylor College of Medicine. He conducted his postdoctoral studies at Robert Wood Johnson Medical School where he joined the faculty as Assistant Professor in the Department of Physiology and Biophysics. Currently, Dr. Weisleder is Professor and Director of Graduate Studies in the Department of Physiology and Cell Biology at The Ohio State University Wexner Medical Center. He also serves as the Director of the Office of Postdoctoral Affairs at The Ohio State University.
Dr. Weisleder has published numerous peer-reviewed publications or book chapters in the fields of muscle physiology, cardiovascular disease, cytoskeletal dynamics, membrane repair, and cellular calcium homeostasis in normal physiology and disease states. His research in these areas has been supported by the NIH and several private foundations, including the Muscular Dystrophy Association, Children’s Cardiomyopathy Foundation, and the National Football League.
He has chaired sessions at national and international meetings on muscle physiology and metabolism and currently serves on the scientific advisory panels of the MDA and American Federation for Aging Research. Additionally, he is an inventor on dozens of US and international patents. These inventions became the basis for the formation of TRIM-edicine, a biotechnology company developing protein therapeutics targeting regenerative medicine applications, where Dr. Weisleder is a Founder and previously served as Chief Scientific Officer. He has received a Fellowship from the American Heart Association, a Pathway to Independence Award from the National Institutes of Health, and the Kauffman Foundation Outstanding Postdoctoral Entrepreneur Award.