NORD is grateful to the following medical experts for serving as authors of this Physician Guide:
Dr. Michelangelo Mancuso is the head of the Centre of Neurogenetics and expert for mitochondrial diseases and rare diseases at the Neurological Clinic of the University Hospital of Pisa. Scientific activity of Dr. Mancuso has mainly been conducted in the field of mitochondrial and neuromuscular diseases. Sectors of interest are epidemiological and clinical-molecular correlation studies in mitochondrial diseases, assessment of biological and genetic markers in amyotrophic lateral sclerosis, Alzheimer’s disease and other genetic neuromuscular and neurodegenerative disorders. His research has been presented in national and international congresses and published in more than 150 full papers in peer-reviewed scientific journals.
Dr. Mancuso is actively involved in multiple projects mainly focusing on mitochondrial diseases. He is an active member of the Italian Network of Mitochondrial diseases and of the International Consortium of Mitochondrial diseases experts for the development of the International Database for Mitochondrial diseases. Dr. Mancuso has coordinated clinical trials on mitochondrial diseases, and has been invited to publish several reviews focusing on mitochondrial therapy.
Dr. Michio Hirano is a Professor of Neurology, Director of the H. Houston Merritt Neuromuscular Research Center, and Chief of the Neuromuscular Medicine Division at Columbia University Medical Center. He is also the Clinical Principal Investigator of the National Institutes of Health (NIH) U54 funded North American Mitochondrial Disease Consortium (NAMDC), which is comprised of 17 centers of mitochondrial disease clinical expertise in the United States and Canada. NAMDC is a member of the Rare Disease Clinical Research Network (RDCRN) sponsored by the NIH National Center for Advancing Translational Studies (NCATS). NAMDC features a clinician-populated mitochondrial disease clinical registry, a mitochondrial disease biorepository, pilot studies, natural history studies, and a clinical trial.
Dr. Hirano’s research focuses on genetic neuromuscular and mitochondrial diseases. His laboratory has identified causative mutations for more than 10 diseases including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), LAMP-2 deficiency, and primary coenzyme Q10 deficiencies. In addition, to characterize the pathogenesis and develop therapies for human diseases, his laboratory studies cell and mouse models. Dr. Hirano has also led clinical trials including the phase I safety study of hematopoetic stem cell transplantation for MNGIE and a phase II study of idebenone for MELAS.
This NORD Physician Guide was made possible by an educational grant from Stealth BioTherapeutics.
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