Neuromuscular
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UCLA Neuromuscular Program
Faculty in Neuromuscular Medicine conduct both basic and clinical research.
Program Director
Melissa Spencer, PhD, Professor
Dr. Spencer is currently a Professor of Neurology and a co-director for the Center for Duchenne Muscular Dystrophy at UCLA, which is a translational center that supports both basic and clinical research. In her role as co-director and as Director of the Neuromuscular Division in the Department of Neurology, she leads several efforts pertaining to growth of the center including the Pediatric Neuromuscular Clinic, the organization of the annual retreat, working group meetings and pilot and feasibility program. She has been conducting translational muscle research for over 25 years and has been the PI on both basic and clinical studies, including a P30 Core Center. She was awarded a PECASE in 2001 and has continued to serve in leadership and advisory roles for federal and private agencies in the muscular dystrophy arena and on the UCLA campus.
The research program in the Spencer Lab focuses on understanding normal skeletal muscle biology and on how alterations or defects in normal processes (via genetic mutations) lead to muscle disease. The lab seeks to gain mechanistic insights on skeletal muscle signaling that leads to functional adaptation, stem cell biology, inflammation in normal and disease settings and understanding the pathogenic progression of muscular dystrophies. By gaining insight into normal muscle processes, this knowledge can subsequently be applied towards therapeutic interventions. A key area of interest in the lab is the genetically inherited muscular dystrophies, primarily limb girdle muscular dystrophy and Duchenne. Significant work has been done on LGMD type 2A, due to CAPN3 mutations and this work has led to the key finding that CAPN3 and CAMKII signaling are integral to skeletal muscle remodeling. The lab also focuses on characterizing inflammatory processes that participate in DMD pathophysiology and on developing gene therapeutics for Duchenne muscular dystrophy. In particular, the lab is working with Drs. April Pyle and Huan Meng on development of a CRISPR/Cas9 based gene editing platform and nanoparticle mediated delivery systems.
Faculty Clinicians
Michael Graves, MD, Professor Emeritus
Dr. Graves's research interests include “Bayesian diagnosis of ALS” and clinical trials in ALS and other neuromuscular disease. UCLA is a member of the Western ALS Research Group (WALS), Northeast ALS research group (NEALS), and Pacific 10 ALS Research Group. Dr Graves serves on the Medical Advisory Board for the GBS/CIDP Foundation International, which has designated UCLA as a ”Center of Excellence” in inflammatory neuropathies.
Anasheh Halabi, MD, PhD, Assistant Clinical Professor
Dr. Halabi graduated from UCLA in neuroscience and music history. She completed a combined MD/PhD degree program at Louisiana State University in New Orleans. Her PhD was in genetics and she focused on the effect of mismatch repair proteins on trinucleotide repeat expansion in a cellular model of Friedreich Ataxia. At LSU, she was awarded an NIH F30 grant, received the Chancellor's Award for the quality of her dissertation, and received a number of national and international travel awards related to her research. Dr. Halabi then returned to California and completed a residency internship at Cedars Sinai and Neurology residency at UCSD. During Neurology residency, she served as administrative chief resident. She received numerous teaching and clinical awards within the Department of Neurosciences, the School of Medicine, and across the UCSD health system including the Kaiser Teaching award (one of only two house-staff across the entire health system among all disciplines), the Gold Humanism in Medicine Resident Teaching Award (twice), Golden Neuron Award for Outstanding Resident Teacher, and the Bob Leshner Humanism Award. She again returned to her beloved UCLA for a Neuromuscular Fellowship and joined the Department of Neurology faculty in August 2020. Due to her partnership with the Hereditary Neuropathy Foundation, UCLA was recently selected as their newest Center of Excellence for hereditary neuropathies. She is board-certified in Neurology and Neuromuscular medicine, and she is now founding a comprehensive multidisciplinary peripheral neuropathy program as director.
Yigit Karasozen, MD, Health Sciences Clinical Assistant Professor
Dr. Yigit Karasozen is currently a Health Sciences Clinical Assistant Professor at UCLA Department of Neurology, specializing in the diagnosis and clinical care of patients with rare nerve and muscle diseases. He earned his M.D. degree from Istanbul University. Following graduation, he completed a post-doctoral research fellowship at the University of Washington, where he worked on genomics of brain tumors and intracranial aneurysms for discovery of somatic mutations. He completed his Neurology training at the University of Texas Health Science Center at Houston and Neuromuscular Medicine fellowship training at UCLA, before joining the faculty under the Neuromuscular Division at UCLA. His research interests include clinical trials for gene therapies and using novel genetic sequencing methods for discovery of novel genes and genetic mechanisms that cause neuromuscular disease.
Stanley F. Nelson, MD, Professor
Stanley F. Nelson, M.D. is Professor and Vice Chair of Human Genetics and Professor of Psychiatry within the David Geffen School of Medicine at UCLA where he has been on faculty since 1993. Prof. Nelson attended the University of Michigan and obtained a BS degree in Physics in 1982. He graduated from Duke University School of Medicine in 1987 and completed an ITT International Fellowship to Sweden in the Laboratory of George Klein. He was trained in Pediatrics and Pediatric Hematology-Oncology at UCSF School of Medicine, and subsequently trained as a postdoctoral fellow with Patrick Brown from 1990-1993 where he developed genomic mismatch scanning and initiated the lab development of DNA microarrays for genomic applications. At UCLA, Prof. Nelson has continued to be interested in technology development and application of genomics to cancer biology and common human diseases with active research areas in Autism, ADHD, vertigo and brain cancers. He developed and continues to direct the UCLA DNA Microarray Facility which provides access to whole genome expression array analysis for faculty on campus and for the NIH Neuroscience Blueprint. His current interest is in the development and application of technologies for whole genome sequencing and cancer genome sequencing.
Perry Shieh, MD, PhD, Health Sciences Associate Clinical Professor
Dr. Shieh specializes in the diagnosis and the clinical care of rare muscle disease. His research interests are focused on:
- Clinical trials for muscle diseases
- Pathogenesis of neuromuscular conditions
- Biomarkers of neuromuscular diseases.
Dr. Shieh earned his MD and PhD degrees from the Johns Hopkins University of Medicine before completing his Neurology Residency Training at Stanford and his Clinical Neurophysiology Fellowship training at Partners in Boston. He joined the faculty in 2003.
Payam Soltanzadeh, MD, Assistant Clinical Professor
Payam Soltanzadeh, M.D. is a Clinical Professor of Neurology who received his M.D. degree from Tehran University of Medical Sciences where his thesis focused on hereditary inclusion body myopathy (GNE myopathy). As a Postdoctoral Fellow at the Institute of Myology, Pitié-Salpêtrière Hospital he carried out research on the molecular characterization of congenital myasthenic syndromes due to MuSK mutations. Subsequently, Dr. Soltanzadeh did post-doctoral research with Dr. Kevin Flanigan at the University of Utah, where he participated in the United Dystrophinopathy Project, studying Genotype-phenotype correlations in Duchenne and Becker muscular dystrophy. Dr. Soltanzadeh did his residency at the University of Maryland School of Medicine and his fellowship at the University of Utah, under the mentorship of Dr Mark Bromberg. Dr. Soltanzadeh is board certified in Neurology and Neurophysiology and he treats both adult and pediatric patients with neuromuscular disorders. His research interests include Duchenne muscular dystrophy, limb girdle muscular dystrophies, myotonic dystrophies and GNE myopathy.
Martina Wiedau-Pazos, MD PhD, Health Sciences Clinical Professor
The research of Dr. Wiedau focuses on disease mechanisms and therapeutic development for ALS. The ALS clinic cares for patients in the comprehensive multi-specialty clinic, provides consultation services and the opportunity to participate in clinical research and therapeutic trials.
Dr. Wiedau received her medical degree from the Philipps University in Marburg, Germany. She completed neurology residency and fellowship training in neuromuscular disease and neurogenetics at UCLA where she was appointed to the faculty in 2003.
She is diplomate of the American Academy of Neurology, a member of the North-East ALS consortium and the Western ALS group.
Mai Yamakawa, MD, Health Sciences Clinical Instructor
Dr. Yamakawa received an M.D. degree from Keio University School of Medicine along with research training in molecular biology of ALS genetics. She completed Neurology Residency at University of Kansas and Neuromuscular Medicine Fellowship at UCLA. She is currently a Health Sciences Clinical Instructor in the UCLA Department of Neurology. Her research focuses on clinical and translational research including functional genomics and pathophysiology of ALS, frontotemporal dementia, and Alzheimer's disease, and she was awarded Development Grant from American Neuromuscular Foundation for her continued research training. Dr. Yamakawa is board certified in Neurology.
Faculty Scientists
Stephen C. Cannon, MD, PhD, Chair of the UCLA Department of Physiology
Dr. Stephen Cannon is Professor and Chair of the Department of Physiology at the David Geffen School of Medicine at the University of California in Los Angeles. He also serves as Interim Chair of Molecular and Medical Pharmacology, and as Professor of Neurology at the DGSOM. He received his MD and PhD at the Johns Hopkins Medical School and then completed a neurology residency at the Massachusetts General Hospital. As member of the neurobiology faculty at Harvard Medical School, he discovered a gain-of-function defect in the gating of mutant sodium channels in periodic paralysis. This marked the beginning of a series of contributions from the Cannon Lab on the biophysical basis of anomalous membrane excitability in the ion channelopathies of skeletal muscle. His group has elucidated fundamental mechanisms underlying myotonia and periodic paralysis that have guided approaches to disease management. In 2002, he relocated to Dallas, TX as the Chair of Neurology and later served as Associate Dean for Medical Education at UT Southwestern Medical Center. Dr. Cannon moved to UCLA in 2015, where his lab is now using genetically engineered mouse models and computational methods to investigate the mechanisms by which environmental triggers (K+, pH, exercise) transiently reduce muscle excitability to cause episodes of weakness in periodic paralysis. These preclinical studies have identified new pharmacological strategies for reducing the frequency and severity of attacks of weakness, and gene therapy approaches are underway to seek a more durable treatment that may also prevent late-onset permanent muscle weakness.
Rachelle Crosbie-Watson, PhD, Professor
Dr. Crosbie-Watson is a Professor in the Department of Integrative Biology & Physiology and holds a joint appointment in the Department of Neurology within the David Geffen School of Medicine at UCLA. She is Vice-Chair of Graduate Education and Chair of the Master's Program in Integrative Biology & Physiology. Dr. Crosbie-Watson is Director of a NIH T32 Muscle Cell Biology, Pathogenesis, and Therapeutics training program for PhD graduate students and postdoctoral fellows. She is also Education Director within the Center for Duchenne Muscular Dystrophy at UCLA. Dr. Crosbie-Watson is a National Academies Education Scholar. Her leadership and innovation were recognized with the UCLA Chancellor's Distinguished Teaching Award. She is a member of the Molecular Biology Institute, Brain Research Institute, Center for Duchenne Muscular Dystrophy, and the UCLA Health Jonsson Comprehensive Cancer Center. She has received the Coalition Duchenne Lotus Award for Research and Education and she was selected as the College of Letters and Science Dean's Marshal. Dr. Crosbie-Watson received her B.S. in Biochemistry at Texas A&M University with Departmental Honors for Excellence in Research. She was selected as the Distinguished Biochemistry Undergraduate. She earned a PhD in Biochemistry from UCLA in the laboratory of Professor Emil Reisler, PhD in which she investigated the structural determinants of actin function. She was one of a few graduate students who received departmental awards for both research and teaching accomplishments. Dr. Crosbie-Watson was supported by the Robert G. Sampson Neuromuscular Disease Postdoctoral Fellowship from the Muscular Dystrophy Association during her postdoctoral training with Professor and Chair Kevin P. Campbell, PhD HHMI Investigator at the University of Iowa Carver College of Medicine. She received the Excellence in Postdoctoral Research Award at the University of Iowa. Dr. Crosbie-Watson has served as a regular member of NIH Skeletal Muscle Emphasis Panel Study Section, the MDA Research Advisory Panel, and is a member of the Strykagen Scientific Advisory Board. Her research program is funded by R01 grants from NIH NIAMS and NHLBI as well as research grants from the MDA.
Ling Liu, PhD, Associate Adjunct Professor
Dr. Liu's research focuses on the molecular and cellular mechanisms that regulate the maintenance of neuromuscular structure and function in adult animals. She uses single cell sequencing technologies to delineate the intercellular interaction and signaling networks of all cell types that reside in skeletal muscle. Her research interests include:
- The structural and functional decline in neuromuscular integrity in aged animals;
- The impact of inflammation on neuromuscular maintenance;
- The mechanisms by which exercise promotes neuromuscular integrity during aging.
Dr. Liu earned her PhD degree in molecular and cellular biology from State University of New York, Stony Brook, and completed her postdoctoral training in stem cell biology at Stanford University in 2013. She joined the UCLA faculty in 2022.
Thomas A. Rando, MD, PhD, Director of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA
Thomas A. Rando, MD, PhD is Director of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, where he is also Professor of Neurology and of Molecular, Cell, and Developmental Biology. Dr. Rando received his AB, MD, and PhD degrees from Harvard University and then completed a residency in neurology at UCSF and postdoctoral training at Stanford University. Prior to coming to UCLA in 2021, he had been on the faculty Stanford University School of Medicine in the Department of Neurology and Neurological Sciences. At Stanford, Dr. Rando was the founding Director of the Glenn Center for the Biology of Aging, a member of the Institute for Stem Cell Biology and Regenerative Medicine, founding deputy director of the Stanford Center on Longevity, and Chief of Neurology at the Palo Alto VA Medical Center. Dr. Rando's research focuses on stem cell biology and the biology of aging. His stem cell work has focused on the regulation of cell fate decisions with a particular interest in stem cell quiescence. He has been a pioneer in the field of systemic factors as regulators of cellular aging beginning with seminal studies done in his laboratory using the technique of heterochronic parabiosis. These studies have formed a foundation of current approaches to epigenetic rejuvenation. He is a scientific founder of Fountain Therapeutics whose mission is to develop therapies for diseases of aging based these fundamental biological principles. Dr. Rando has received numerous awards including an NIH Director's Pioneer Award, an Ellison Medical Foundation Senior Scholar Award in Aging, the “Breakthroughs in Gerontology” Award from the American Federation for Aging Research, and a Transformative Research Award from the NIH. He is a Fellow of the American Association for the Advancement of Science, a member of the National Academy of Medicine, and a member of the American Academy of Arts and Sciences.
The Rando Lab website can be found here.
Clinical Trials
List of UCLA Neurology's ongoing trials in neuromusculardiseases
View links below to ClinicalTrials.gov for the most up-to-date information
Duchenne Muscular Dystrophy
For additional information, please visit the Center for Duchenne Muscular Dystrophy at UCLA website.
Phase 3 Study of nusinersen in Infantile-onset Spinal Muscular Atrophy - Sponsored by IONIS/Biogen, Inc. – extension study ongoing
Phase 3 study of nusinersen in type 2 Spinal Muscular Atrophy, Sponsored by IONIS/Biogen Pharmaceuticals, Inc. – exten sion study ongoing
Phase 2 study of nusinersen in patients with spinal muscular atrophy who are not eligible to participate in other nusinersen studies, Sponsored by Biogen/IONIS – extension study ongoing
Phase 2 study of CK-2127107 (a troponin activator) In Spinal Muscular Atrophy, Sponsored by Cytokinetics – study ongoing
Phase 1, Intrathecal Gene Therapy (AAV9-SMN) study for Type 2 Spinal Muscular Atrophy, Sponsored by Avexis – soon to start
Phase 3, Intravenous Gene Therapy (AAV9-SMN) study for Type 1 Spinal Muscular Atrophy, Sponsored by Avexis – soon to start
Phase 2 Study of Sialic Acid-Extended Release in Patients with GNE Myopathy or Hereditary Inclusion Body Myopathy” Sponsored by Ultragenyx Pharmaceutical – extension study ongoing
Phase 2 study of RTA 408 In Mitochondrial Myopathy Sponsored by Reata Pharmaceuticals, Inc. – study ongoing
Expanded Access Program for 3,4-Diaminopyridine Phosphate in Lambert-Eaton Myasthenic Syndrome and Congenital Myasthenic Syndrome Sponsored by Catalyst Pharmaceutical Partners, Inc. – study ongoing
Phase 3 Follow-Up Study of 3,4 Diaminopyridine Phosphate in Lambert-Eaton Myasthenic Syndrome, Sponsored by Catalyst Pharmaceuticals, Inc. – study ongoing
Phase 3 study of 3,4-Diaminopyridine Phosphate Congenital Myasthenic Syndromes Sponsored by Catalyst – study ongoing
Pre-phase 1, Natural History study of X-Linked Myotubular Myopathy, Sponsored by Audentes Therapeutics - study ongoing
Phase 1/2, Gene Therapy (AAV8-MTM) in X-Linked Myotubular Myopathy (XLMTM) Sponsored by Audentes Therapeutics – soon to start
Phase 2 study of ACE-083 (anti-myostatin) in Facioscapulohumeral Muscular Dystrophy Sponsored by Acceleron – soon to start
Phase 3 of neoGAA (GZ402666) vs. lumizyme enzyme replacement in treatment-naïve patients with late-onset Pompe disease Sponsored by Sanofi – soon to start >
Neuro NEXT
UCLA is part of the NeuroNEXT network that is sponsored by the National Institute of Neurological Diseases and Stroke at the National Institute of Health. Dr. Perry Shieh and Michael Graves participate in a number of clinical trials that are sponsored by NIH, industry, and non-profit organizations. Currently active clinical trials include trials for:
- Late Onset Pompe Disease (sponsored by BioMarin)
- Hereditary Inclusion Body Myopathy (sponsored by Ultragenyx)
- Periodic Paralysis (HYP-HOP, NIH Sponsored)
- Steroid trial for Duchenne Muscular Dystrophy (FOR-DMD, NIH Sponsored)
- Spinal Muscular Atrophy Biomarker (sponsored by NIH through NeuroNEXT)