American Dystonia Science Advisory Board

Dr Steven Frucht, MD - Board Chairman

Dr. Frucht maintains an active and busy clinical practice within the Movement Disorders Division at Columbia-Presbyterian, seeing patients with a wide range of movement disorders. In addition to patients with Parkinson's disease, Dr. Frucht has a special interest in patients with unusual or rare movement disorders, including such conditions as myoclonus, dystonia and paroxysmal disorders. He injects botulinum toxin for hemifacial spasm, blepharospasm, torticollis, tics and jaw-closing dystonia, and performs more than 350 injections per year. He often sees pediatric patients with movement disorders in consultation. In addition, Dr. Frucht also serves on the editorial Board of Movement Disorder.

In addition to his clinical work, Dr. Frucht is engaged in academic pursuits within neurology. He reviews manuscripts for the journals Movement Disorders, Clinical Neuropharmacology, Muscle and Nerve, and Neurology and is an author of 65 peer-reviewed articles. He coordinates the fellowship-training program of the Center for Parkinson's Disease, and is actively involved in the training of movement disorder fellows.

Dr. Frucht's research interests include diverse topics within the field of movement disorders. He performs and plans clinical trials of new drugs for the treatment Parkinson's disease and other involuntary movement disorders. As a young investigator of the Myoclonus Research Foundation, he has directed significant effort to develop clinical rating scales and new therapies for patients with intractable myoclonus. A trained classical musician, he founded the program entity Musicians with Dystonia to aid and serve professional musicians afflicted with focal task-specific dystonia, and frequently sees musicians in consultation.

Dr. Christopher Walsh, MD, PhD

Dr. Christopher Walsh is Bullard Professor of Neurology at Harvard Medical School, Chief of the Division of Genetics at Boston Children's hospital, director of the Harvard-MIT M.D.-Ph.D. program, and an Investigator of the Howard Hughes Medical Institute at Beth Israel Deaconess Medical Center. He completed his B.S. degree at Bucknell University in chemistry and the M.D. and Ph.D. degrees at the University of Chicago. After a neurology residency and chief residency at Massachusetts General Hospital, he completed a fellowship in genetics at Harvard Medical School. Dr. Walsh has studied patterns of neural stem cell division, cell fate choices, and cell migrations in the developing cerebral cortex, and has pioneered the analysis of human genetic diseases that disrupt the cerebral cortex. Among his awards are a Jacob Javits Neuroscience Investigator Award from the National Institute of Neurological Disorders and Stroke, the Dreifuss-Penry Award from the American Academy of Neurology, the Derek Denny-Brown Award from the American Neurological Association, and the Milken Award from the American Epilepsy Society

Philip A. Starr MD, PhD

Dr. Philip Starr is Professor in Residence of Neurological Surgery, Dolores Cakebread Endowed Chair at the University of California at San Francisco. Dr Starr is Co-Director, Functional Neurosurgery Program and Surgical Director, Parkinson's Disease Research, Education and Care Center (PADRECC) at San Francisco Veteran's Affairs Medical Center Dr. Starr's particular specialty interests lie in the area of movement disorders, including Parkinson's disease, tremor, and dystonia. He has fellowship training in microelectrode-guided surgery of movement disorders, which he completed at Emory University in Atlanta, Georgia. Dr. Starr's research interests include physiology of the basal ganglia, clinical trials of novel surgical therapeutics in movement disorders, and the use of interventional magnetic resonance imaging (iMRI) for functional neurosurgery. His primary focus is on research related to the neurophysiology and therapy of movement disorders. Dr. Starr is an investigator for the largest formal clinical trial of deep brain stimulation (DBS) currently taking place in North America: "A Randomized Trial of Best Medical Therapy versus Deep Brain Stimulation of the Globus Pallidus or Subthalamic Nucleus for Parkinson's Disease." This is a 6-center trial jointly funded by the Department of Veterans Affairs and the National Institutes of Health. The technical approach involves magnetic resonance-based stereotaxy and microelectrode recordings to map the borders of the surgical target area. Dr. Starr is also surgical investigator on several Phase I clinical trials of gene transfer approaches for the treatment of Parkinson's disease. Dr. Starr is one of the most experienced surgeons in North America in the surgical treatment of dystonia using DBS. He conducts NIH-funded research on pallidal physiology in patients with dystonia. Previous experience and education: 1983: BS, Princeton University; 1989: MD, Harvard Medical School; 1989: PhD, Neuroscience, Harvard Medical School; 1989-1990: Internship, General Surgery, Brigham and Women's Hospital; 1990-1995: Residency in Neurosurgery, Brigham and Women's and Children's Hospital; 1995: Chief Resident (Clinical Elective) C.H.U.V., Prof. N. de Tribolet, Lausanne, Switzerland
1996-1997: Clinical Fellowship in Movement Disorders, Emory University
1997-1998: Instructor, Department of Neurological Surgery, Emory University

Dr William Dauer, MD
Elinore Levine Professor of Neurology, University of Michigan

Director of the Dauer laboratory whose central goal is to unravel the molecular and cellular mechanisms of diseases that disrupt the motor system. Dr. Dauer's lab focuses on disease genes that cause these disorders, employing a range of molecular, cellular, and whole animal studies to dissect the normal role of disease proteins, and how pathogenic mutations lead to disease. The lab's Dystonia work centers around the biology of torsinA, mutations in which cause the most common genetic form of primary dystonia. Their work has discovered that neurons have a unique requirement for nuclear envelope-localized torsinA function, and have begun to dissect the mechanisms underlying this neural specificity. These studies involve characterization of a stem cell-based model of torsinA function that mimics the neuronal selective alterations seen in torsinA mutant mice. They have also begun using PET and DTI brain imaging to identify the dysfunctional neural circuit in DYT1 disease mutant "knock in" mice, and we are currently working to dissect the cellular and molecular correlates of these imaging findings.
Degree: M.D., 1990, Washington University, School of Medicine, St. Louis, MO
Residency: 1996, Columbia University
Fellowships: Neurology, 1992, Massachusetts General Hospital, Boston, MA
Movement Disorders, 1997, Columbia University, NY, NY
Neurology, 2001, Center for Neurobiology & Behavior, NY, NY
Certification: 1997, American Board of Psychiatry & Neurology
Recertification: 2010, American Board of Psychiatry and Neurology

Dr Pamela Whitney Schaefer, MD

Dr Pamela Schaefer, a 1982 graduate of Princeton University, is currently the Clinical Director of MRI at Massachusetts General Hospital and the Associate Director of Neuroradiology. She completed her MD studies at Johns Hopkins University School of Medicine and both her Residency and Fellowship at Massachusetts General Hospital. She holds a certification in Diagnostic Radiology, American Board of Radiology.

Dr Roy Alcalay, MD

Dr. Roy Alcalay is currently a fellow in Neurology at NewYork-Presbyterian/Columbia specializing in Neurology and training in the clinical treatment of Dystonia using Botulunin toxin. Dr. Roy Alcalay is one of the most promising researchers in Neurology. He brings youth and a different perspective to our science board.

Dr Alcalay completed his medical training at Tel-Aviv University School of Medicine
and his residency at Massachusetts General Hospital

Dr Brian Thomas, MD

Brian D. Thomas, MD is a board-certified internist and Assistant Clinical Professor of UMDNJ-Robert Wood Johnson Medical School in New Brunswick where he previously served as an Instructor and Chief Resident. He is recipient of the Robert Wood Johnson Medical School Certificate for Excellence in Teaching. Dr. Thomas received his Bachelor of Science degree in chemistry with a concentration in biochemistry from Duke University before pursuing his medical education and internal medicine residency training at Robert Wood Johnson Medical School.

Dr. Thomas will be involved in helping ADS formulate and advocate guidelines to help primary care physicians recognize the signs of Dystonia and to get patients to movement disorder specialists.

Dr. Stuart Joseph, MD

Dr. Stuart Joseph has been practicing Internal Medicine in Miami, Florida since 1989. He is originally from San Juan, Puerto Rico. He has lived in Mexico, New Jersey and Michigan. He completed his Bachelor's Degree in Biology at Princeton University in 1982 and completed medical school at the University of Puerto Rico in 1986. He completed his residency in Internal Medicine at Henry Ford Hospital in Detroit, Michigan in 1989. He became Board Certified in Internal Medicine in 1989 and specializes in diabetes, hypertension, and primary care. In 2006, he was diagnosed with tonsil cancer. He received intensive radiation and chemotherapy at Baptist Hospital with intent to cure. It has been 3 years and so far there has been no recurrence of cancer. At 2 1/2 years post-treatment he began to experience severe pain in the neck when tilted his head down and to the left. He was recently diagnosed with Cervical Dystonia

Dr Joseph's statement: "More recently I began to experience focal spasms in the left side of the neck when I would look left and down. Thanks to the efforts of American Dystonia Society and other foundations I have finally been able to make a diagnosis, visit a neurologist, and get some treatment for my cervical dystonia which in my case is likely secondary to radiation".