Neuromuscular


UCLA is part of the NeuroNEXT network that is sponsored by the National Institutes of Health National Institute of Neurological Diseases and Stroke. 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)
  • NP001 for Amyotrophic Lateral Sclerosis (ALS) (sponsored by Neuraltus Pharmaceutical).
  • Ceftriaxone for Amyotrophic Lateral Sclerosis (ALS) (NEALS study, NIH Sponsored).

Program Director

Melissa Spencer, Ph.D.

Professor of Neurology, Neuromuscular

Research in the Spencer lab focuses on pathogenesis and therapy for the muscular dystrophies, which are genetically inherited muscle wasting disorders. The Spencer lab focuses on two muscular dystrophies called Duchenne muscular dystrophy (DMD), which is caused by mutations in the DMD gene and limb girdle dystrophy 2A, caused by mutations in the CAPN3 gene. The lab conducts translational research devoted to identifying treatments for these two diseases. In LGMD2A, the Spencer lab identified calcium calmodulin kinase signaling as defective and is actively searching for small molecules to modulate this signaling pathway and downstream gene signature. The lab is also actively investigating underlying mechanisms of LGMD2A. In Duchenne muscular dystrophy the lab focused on two areas, the first is mechanisms of inflammation that impact disease, in particular those involving osteopontin. The lab is currently searching for inhibitors of osteopontin in collaboration with a pharmaceutical company. The last area of the research involves exon skipping, in collaboration with Drs. M. Carrie Miceli and Stanley Nelson, and gene correction using CRISPR/Cas9 technology. We are currently applying this technology to human induced pluripotent stem cells in collaboration with Dr. April Pyle, but are also developing in vivo delivery systems.

Faculty Clinicians

Perry Shieh, M.D., Ph.D.

Associate Professor of Neurology, Neuromuscular Medicine, Neuromuscular
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 condiitons
  • Biomarkers of neuromuscular diseases.

Dr. Shieh earned his M.D. and Ph.D. 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. faculty in 2003.

Martina Wiedau-Pazos, M.D. Ph.D

Health Sciences Clinical Professor, Neuromuscular

Francy Shu, M.D.

Health Sciences Assistant Clinical Professor, Neuromuscular

Michael Graves, M.D.

Professor Emeritus of Neurology, Neuromuscular

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.

Faculty Scientists

Rachelle Crosbie-Watson, Ph.D.

Professor of Integrative Biology and Physiology, Neuromuscular

Carmen Bertoni, Ph.D.

Associate Professor of Neurology

Carmen Bertoni, PhD, focuses on the development of new methods to treat muscle disorders. Her laboratory studies methods to effectively target and correct genetic defects responsible for those diseases with an emphasis on developing treatment for Duchenne muscular Dystrophy (DMD), the most severe of the muscle diseases affecting children. The goal of the laboratory is to bring new technologies from the bench to the bedside and to ensure that the treatment leads to restoration of therapeutically relevant amounts of protein missing as the result of the genetic defect. Research in the laboratory is funded by grants from the National Institute of Health (NIH), the Department of Defense (DoD), the Muscular Dystrophy Association (MDA) and the Parent Project muscular dystrophy (US). Dr. Bertoni serves as an Ad-Hoc reviewer for a number of international journals. She also sits on numerous scientific advisory boards, including the Muscular Dystrophy Association (MDA) and the Neuromuscular Disease Foundation (NDF).