Our Team

Dr. Lieberman is the Gerald D. Abrams Professor in the Department of Pathology and Director of Neuropathology at the University of Michigan. Dr. Lieberman received his BS from Duke University and his MD, PhD from the University of Maryland Medical School. He completed residency training in Anatomic Pathology and fellowship training in Neuropathology at the University of Pennsylvania. He trained as a research fellow with Dr. Kenneth Fischbeck at the Neurogenetics Branch NINDS, NIH, and then joined the University of Michigan Medical School faculty in 2001. Dr. Lieberman’s research has focused on the mechanism of neurodegeneration in inherited neurological disorders. His laboratory uses cell culture and mouse models to explore the pathogenesis of Kennedy’s disease and Niemann-Pick C, a lysosomal storage disease resulting from impaired lipid trafficking.

Dr. Fischbeck is a Distinguished Investigator working in the Neurogenetics Branch of NIH. The purpose of the Neurogenetics Branch is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. Particular areas of research interest in the Fischbeck lab have included Kennedy's disease and other polyglutamine expansion diseases, spinal muscular atrophy, Charcot-Marie-Tooth disease, muscular dystrophy, and other hereditary motor neuron diseases. A genetic outreach program is intended to identify and characterize patients and families with hereditary neurological diseases. The disease mechanisms are studied and potential treatments are evaluated in cell culture and other model systems. Clinical trials have been done for Duchenne muscular dystrophy and Friedreich's ataxia as well as Kennedy's disease. Efforts are currently underway to develop new clinical and quality of life measures for Kennedy’s disease therapeutic trials. Dr. Fischbeck received A.B. and A.M. degrees from Harvard University and an M.D. degree from Johns Hopkins. After a medical internship at Case Western Reserve University and a neurology residency at the University of California in San Francisco, he did postdoctoral research on muscular dystrophy at the University of Pennsylvania. In 1982 he joined the faculty in the Neurology Department at the University of Pennsylvania Medical School, and in 1998 he joined NIH as Chief of the Neurogenetics Branch. Dr. Fischbeck received the Cotzias Award from the American Academy of Neurology and the Jacoby Award from the American Neurological Association, and he was elected to the National Academy of Medicine.

Dr. La Spada is a Distinguished Professor and Director of the UCI Institute of Neurotherapeutics, which he founded. He is also Associate Dean for Research in the School of Medicine. Dr. La Spada graduated Summa Cum Laude from the University of Pennsylvania with a degree in Biology in 1986. While a M.D. - Ph.D. student at the University of Pennsylvania School of Medicine, he identified the cause of X-linked spinal & bulbar muscular atrophy (SBMA) as an expansion of a trinucleotide repeat in the androgen receptor gene. As the first disorder shown to be caused by an expanded repeat tract, this discovery of a novel type of genetic mutation led to the emergence of a new field of study. After completing training as a Clinical Genetics fellow and a Howard Hughes Medical Institute Physician Postdoctoral Fellow, Dr. La Spada joined the faculty at the University of Washington Medical Center in 1998, and became a Professor of Laboratory Medicine, Medicine (Medical Genetics), Pathology, and Neurology (Neurogenetics). In 2009, he was appointed Professor and Division Head of Genetics in Pediatrics, Cellular & Molecular Medicine, and Neurosciences at the University of California, San Diego, and was a founding faculty member and Associate Director of the UCSD Institute for Genomic Medicine. Dr. La Spada then moved to North Carolina where he became the founding Director of the Duke Center for Neurodegeneration & Neurotherapeutics and served as Distinguished Professor of Neurology, Neurobiology, and Cell Biology, holding the Lincoln Financial Endowed Chair at the Duke University School of Medicine. In 2020, he joined the faculty of the University of California Irvine as Distinguished Professor of Pathology & Laboratory Medicine and Neurology.

Dr. Merry is a Professor in the Department of Biochemistry and Molecular Biology and Vice Chair, Faculty Development and Engagement at Thomas Jefferson University in Philadelphia. She is also a member of Jefferson’s Vickie & Jack Farber Institute for Neuroscience and Chair of its Scientific Advisory Board. Dr. Merry’s research uses novel cell and mouse models to understand the molecular pathogenesis of SBMA, first, by determining the role of AR structural and functional domains in DHT-dependent AR misfolding, aggregation, and toxicity and second, by determining pathogenic mechanisms through the identification of altered AR protein-protein interactions. These studies are designed to understand how motor neurons and muscle cells respond to the accumulation of misfolded AR protein and to identify therapeutic opportunities in SBMA. Dr. Merry organized and chaired the first-ever international SBMA research conference in 2021.

Professor Pietro Fratta is an MRC senior clinical fellow and MNDA Lady Edith Wolfson fellow at the UCL Queen Square Institute of Neurology and honorary consultant neurologist at the National Hospital for Neurology and Neurosurgery in London, United Kingdom. His research focuses on molecular mechanisms and biomarkers of motor neuron disease (MND) and Kennedy’s disease, also known as spinal bulbar muscular atrophy (SBMA). His clinical activity is within the MND group at NHNN. He has a specific interest in MND genetics and Kennedy’s disease and runs an MND Genetics clinic and a Kennedy’s disease clinic, the only dedicated clinic to this disease in the UK. He obtained his PhD at the UCL Institute of Neurology working on models of motor neuron disease. He previously trained in Neurology with a focus on neuromuscular disorders, at the University of Milan and at the University of Southern California (USC).

Dr. Sumner is a Professor of Neurology and Neuroscience at Johns Hopkins University School of Medicine. She received her B.A. from Princeton University and M.D. from the University of Pennsylvania. She completed internal medicine internship and neurology residency at the University of California San Francisco and further clinical and scientific fellowship training at Johns Hopkins and the National Institutes of Health (National Institute of Neurological Disorders and Stroke). Dr. Sumner cares for patients with genetically-mediated neuromuscular diseases and co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot-Marie-Tooth (CMT) clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics. Dr. Sumner’s laboratory research focuses on the genetic and cellular pathogenesis of motor neuron and peripheral nerve disorders with particular attention to identification of disease genes, characterization of molecular and cellular disease mechanisms, and preclinical development of therapeutics. Her work has been recognized by elected membership in the American Society of Clinical Investigators and the American Association of Physicians. She serves as an advisor to multiple SMA, CMT, and peripheral neuropathy nonprofit foundations, government, and private companies. She is the coeditor of the only comprehensive book on SMA: Spinal Muscular Atrophy Disease Mechanisms and Therapy.

Alexander McCampbell heads the research efforts in neuroscience and rare diseases at F. Hoffmann-La Roche in Basel. Alex is an experienced drug developer with over 15 years of industry experience. He has advanced eight agents into the clinic with a range of modalities, including antibodies, small molecules, and antisense oligonucleotides, in disease areas including amyotrophic lateral sclerosis, Alzheimer’s disease, and spinal muscular atrophy (SMA). These efforts helped enable both nusinersen (SMA) and tofersen (SOD1) to reach the market, with additional drug candidates in proof of concept trials. He has more than 30 publications spanning nearly two decades and multiple patents, and he has participated on scientific advisory boards and NIH study sections. Alex received his PhD in neuroscience from the University of Pennsylvania in the lab of Dr. Kurt Fischbeck and completed his post-doctoral training at Harvard Medical School.

Chris Grunseich is a physician-scientist specializing in inherited neuromuscular diseases at the NIH Campus in Bethesda, MD. His lab focuses on studying markers of muscle and motor neuron pathology that can be used for detecting disease progression and evaluating efficacy in clinical studies. Dr. Christopher Grunseich completed his undergraduate studies at Brown University and went on to receive his M.D. from SUNY Stony Brook School of Medicine in 2006. Dr. Grunseich completed neurology residency at Georgetown University and a neurogenetics fellowship at NINDS. He became a Lasker clinical research scholar in 2024 and is currently a Tenure Track Investigator at NINDS. Dr. Grunseich oversees an active clinical research program at the NIH Clinical Center. A main focus of his lab is understanding the disease mechanisms of two progressive forms of motor neuron disease: spinal and bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis type 4 (ALS4). The lab seeks to understand how molecular dysfunction in these two diseases results in degeneration and develop new approaches to treatment. Establishing disease specific measures of toxicity in the muscle or spinal cord would allow for improved understanding of the disease mechanism and better approaches to evaluate therapeutic engagement at the target tissue.

Ed Meyertholen is a person living with Kennedy’s Disease. He went to Boston College where he graduated with a Biology/Chemistry major. He then attended graduate school at Purdue University and received his Ph.D. in biology in 1982. After holding faculty positions at several universities, he settled in Austin, TX where he taught Cell and Molecular Biology, Genetics and Physiology at Austin Community College. In 2005, Ed was awarded a sabbatical leave and was able to do research on Kennedy's Disease in the lab of Dr. Diane Merry at Thomas Jefferson University in Philadelphia. In 2012, Ed accepted a position as Assistant Dean and Director of Pre-Health Programs at Georgetown College, Georgetown University, Washington, DC. Now retired, Ed is well-known to the KD community for his informative and entertaining lecture on the biology of Kennedy’s Disease at KDA’s annual conference.

Nicholas Holdgate M.D., a community-based Rheumatologist, resides in Charleston, South Carolina, with his wife and two children. In 2022, he was diagnosed with Kennedy’s disease after experiencing worsening tremors, cramps, spasms, and muscular fatigue. Upon diagnosis, Nick actively engaged with the Kennedy’s Disease Association (KDA) and diligently sought to quickly grasp the current understanding of the disease. He accomplished this by watching previous KDA annual meeting lectures and meticulously reviewing the latest published research and guidelines.

Originally from Nantucket, Massachusetts, Nick’s academic journey began at the College of Charleston, where he pursued a degree in physics, with minors in mathematics, and engineering. After completing his undergraduate training and research, he embarked on a career at NASA’s Goddard Space Flight Center in Maryland. Subsequently, he returned to Charleston to pursue medical school at the Medical University of South Carolina, where he also completed his internship and residency in Internal Medicine. His medical training concluded with a fellowship in Rheumatology at Duke University Medical Center.

As a practicing physician, Nick dedicates his time to providing community-based care, actively participating as an investigator in disease registries and clinical trials. Driven by his passion for understanding Kennedy’s disease, Nick strives to comprehend the underlying mechanisms of this disease affecting his own body. Additionally, he critically evaluates potential interventions and treatments that may alleviate symptoms, delay disease progression, or even lead to a cure.

Attending the annual KDA meetings, collaborating with the KDA, and engaging with the Kennedy’s Disease research community have proven invaluable sources of insight, enjoyment, and fulfillment for Nick. These experiences have enriched his understanding of the disease and provided him with valuable insights into the potential avenues for research and treatment.