Kennedy's Disease Association
Scientific Review Board (As of January 2022)

DrALieberman

Dr. Andrew P. Lieberman - Chair 
University of Michigan Medical School

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. 


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Dr. Kenneth Fischbeck - Chair Emertus
National Institute of Health

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.


 diane_merryDr. Albert La Spada
University of California, Irvine

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.


diane_merry

Dr. Diane Merry
Thomas Jefferson University 

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. 


DrPFratta

Dr. Pietro Fratta
University College, London (UCL)

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)


DrCSummer

Dr. Charlotte Sumner
John Hopkins University School of Medicine

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.


DrAMcCambell

Dr. Alexander McCampbell
ATP Life Science Ventures

Alexander McCampbell is a venture partner at ATP. A pharmaceutical scientist specializing in rare and neurodegenerative diseases, Alex worked at Biogen for nine years, most recently as a vice president building and leading a translational team of 25 people in neuromuscular and muscle research. 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 have resulted to date in one approved drug for SMA (Spinraza™) and multiple drug candidates in proof of concept or pivotal stage trials. Alex has also been integral in multiple business development deals as the scientific point person on strategic collaborations. 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 and completed his post-doctoral training at Harvard Medical School.


Meyertholen

Ed Meyertholen
Patient Liason to SRB

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.
 
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