Angelman

Scientific Advisory Committee

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Scientific Advisory Committee

The ASF Scientific Advisory Committee (SAC) is responsible for overseeing research grants funded by the ASF. The ASF SAC is currently comprised of 17 Angelman syndrome researchers and professionals from both academia and industry, clinicians who work with AS patients, and experts from related fields such as psychology, communication and education. SAC members donate their time and talent to review all research applications submitted to the ASF for funding, work with ASF staff to conduct an annual Scientific Symposium, and work with the ASF on research collaboration. The ASF and the ASF SAC play a strong role in networking researchers and funding research that pursues promising avenues of discovery. This promising research moves us closer to improving AS treatments and to an eventual cure.

ASF SAC membership is evaluated and renewed on two-year terms, ensuring that a range of voices and opinions are expressed during the research funding process.

 

Dan Harvey, PhD, SAC Chair

Dan Harvey was appointed to the ASF Board of Directors in 2012 and chairs the ASF Scientific Advisory Committee.

Dan has more than 20 years of experience in drug discovery research both in academia and the pharmaceutical industry. He became involved with the ASF after his son, Matthew, was diagnosed with Angelman syndrome in 1996. From 1997 to 2001, Dan was a member on the ASF Board of Directors and served as vice president from 1997 to 1999. From 1999 to 2003, he chaired the ASF Scientific Advisory Committee.

Dan is the chief operating officer of Dart NeuroScience LLC, a pharmaceutical company focused on the discovery and development of innovative drugs with new mechanisms of action for the treatment of learning and memory disorders. He previously held various senior management positions at other biomedical research companies including Discovery Partners International, BioFocus DPI, a Galapagos Company, and ChemVentures.

Dan earned a B.A. in Chemistry from the University of California, Santa Barbara and he holds a Ph.D. in synthetic organic chemistry from Yale University and was previously a member of the faculty of the University of California, San Diego. During his academic career, he was a Kent Graduate Fellow, an American Cancer Society Junior Faculty Research Fellow and an Alfred P. Sloan Research Fellow.
Dan resides in San Diego, California with his wife, Karen, and has three children, Michelle, Jay and Matthew.


Charles Williams, MD

Charles A. Williams, M.D. is a Professor of Pediatrics and Genetics in the Department of Pediatrics, University of Florida. He is a board-certified pediatrician and clinical geneticist and has a special interest in neurogenetic disorders. He is a past recipient of the Harry and Audrey Angelman Award for Meritorious Service. The main focus of his research career has been in the study of Angelman syndrome. Since 1982 he has published many papers on the genetic and medical aspects of Angelman syndrome.


Arthur Beaudet, MD

Dr. Beaudet received his M.D. degree from Yale, did pediatric residency training at Johns Hopkins, and was research associate at the National Institutes of Health before joining Baylor College of Medicine where he has remained to the present. Dr. Beaudet has made diverse contributions in the field of mammalian genetics and publishing over 250 original research articles. He has studied Angelman syndrome for many years, and his lab and the Wagstaff lab independently identified the Angelman gene as UBE3A in 1997. Dr. Beaudet is currently the Henry and Emma Distinguished Service Professor and Chair in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston.


Stephen Calculator, PhD

Dr. Calculator is Professor and Chair in the Department of Communication Sciences and Disorders at the University of New Hampshire and an Adjunct Professor of Pediatrics at Dartmouth Medical School in Hanover, NH. He earned his doctorate in Communicative Disorders from the University of Wisconsin-Madison in 1980. Dr. Calculator has published and lectured extensively in the areas of augmentative and alternative communication (AAC) and inclusive education for students with severe disabilities, drawing upon his ongoing experiences as a consultant to numerous schools and other agencies in the USA and beyond. His consultations have included work with more than 50 children with Angelman syndrome, providing assistance to families and other team members in developing educational and communication programs. Dr. Calculator authored a self-study designed to teach families and professionals how to use Enhanced Natural Gestures with their individuals with Angelman syndrome.

He is presently conducting research exploring best practices in providing educational and communication services to children with Angelman syndrome, with support from the Angelman Syndrome Foundation.


Michael Ehlers, PhD

Michael Ehlers is an Investigator of the Howard Hughes Medical Institute and George Barth Geller Professor of Neurobiology at Duke University where he has been since 1998. His research explores how brain cells adapt to changing environments and store information at a molecular level. He has pioneered cell biological studies on the plasticity of synapses, a process fundamental to brain development, learning, and memory. His research has provided important insight into how brain cells grow, connect, and communicate, and has advanced our understanding of basic brain mechanisms that go awry in addiction, schizophrenia, Alzheimer’s disease, stroke, and neurodevelopmental disorders. More recently, he has forged mouse models of neural circuit manipulation in the intact brain that hold promise for decoding complex brain functions.

Born in Germany and raised in rural Nebraska, Ehlers received his B.S. degree in chemistry in 1991 at Caltech before pursuing graduate and medical studies in neuroscience at the Johns Hopkins University School of Medicine in the laboratory of Dr. Richard Huganir. He has received numerous awards and international recognition in neuroscience and cell biology. In 2003, Dr. Ehlers received the Eppendorf & Science Prize for Neurobiology for the most outstanding neurobiological research by a young scientist. He was the recipient of the 2007 John J. Abel Award in Pharmacology given to a single young investigator under forty, and the 2007 Society for Neuroscience Young Investigator Award for outstanding research in neuroscience, among others. He has served on the editorial boards of the Journal of Neuroscience, the Journal of Biological Chemistry and is Associate Editor of Molecular and Cellular Neuroscience. When not researching brain plasticity, he plays French horn in the Duke Symphony Orchestra, is an accomplished pianist, and disappears on occasion for extended backpacking and kayaking.


Michael Greenberg, PhD

Mike Greenberg grew up in Brooklyn, New York, attended Wesleyan University in Connecticut and received his PhD from Rockefeller University in 1982. Following postdoctoral training with Dr. Edward Ziff at New York University Medical School, Dr. Greenberg moved to Harvard Medical School in 1986. He is currently the Nathan Marsh Pusey Professor of Neurobiology and Chair of the Department of Neurobiology at Harvard Medical School. Mike Greenberg’s research interests span a broad range of topics related to the development of the nervous system. His characterization of signaling networks that control brain development has provided new insight into how disruption of normal nervous system development leads to neurological disorders including mental retardation and autism.


Steven Katz, MD

Steve Katz served as an officer or director of the ASF organization since 1997. He has served as President, Vice President, Secretary/Treasurer and Immediate Past-President as well as serving as a director. Steve has served on numerous Foundation committees, represents the ASF as one of two ASF representatives on the Coalition of Patient Advocacy Groups for the Rare Disease Clinical Research Network, co-chaired the ASF Biennial Conference in Philadelphia in 1998; has volunteered for countless ASF projects and has coordinated the ASF walk-a-thon in Philadelphia for four years. Steve was awarded the 2007 Harry and Audrey Angelman Award.


Marc Lalande, PhD

Marc Lalande received a PhD in Medical Biophysics from the University of Toronto in 1981. His postdoctoral training was with Dr. Samuel A. Latt in the Department of Pediatrics, Harvard Medical School and Children's Hospital, Boston, MA. From 1985 to 1988, he was Assistant Professor, Department of Pathology and Center for Human Genetics, McGill University, Montreal, Quebec before returning to Boston Children’s Hospital. He remained at Harvard Medical School until 1998 where we was an Associate Professor of Pediatrics and an Assistant Investigator of the Howard Hughes Medical Institute. He is currently Professor and Chairman of the Department of Genetics Developmental Biology and the Associate Dean for Research Planning and Coordination at the University of Connecticut School of Medicine. He has published extensively in the areas of human molecular genetics and genomic imprinting.


Mark Nespeca, MD

Dr. Mark Nespeca is board certified in pediatrics, child neurology and in clinical neurophysiology. He earned his medical degree from Case Western Reserve University. His postgraduate training included a pediatrics residency at the University of Colorado Affiliated Hospitals, a neurology fellowship at the University of Utah Affiliated Hospitals and a fellowship in epilepsy/clinical neurophysiology at the Cleveland Clinic Foundation.

Dr. Nespeca is Director of the EEG Laboratory at Children's Hospital San Diego. His clinical interests include epilepsy and he serves as vice chairman of the San Diego County Epilepsy Society Professional Advisory Committee.

He is the principal investigator for two current epilepsy research studies. Recent titles of published work include "Subdural Electrodes in Infants and Young Children" in the Journal of Epilepsy and "Vocal Cord Paralysis as a Presentation of Intrauterine Infection with Varicella-Zoster Virus" in Pediatrics.


Ben Philpot, PhD

Dr. Ben Philpot is an Assistant Professor in Cell and Molecular Physiology at the University of North Carolina, and a member of the Neuroscience Center, the Neurobiology Curriculum, and the Neurodevelopmental Disorders Research Center. Prior to this appointment, he was a postdoctoral fellow in the laboratory of Dr. Mark Bear at Brown University and a Research Scientist at the Massachusetts Institute of Technology. Dr. Philpot earned his Ph.D. in psychobiology in the laboratory of Dr. Peter Brunjes at the University of Virginia in 1997. Dr. Philpot is known for his work examining the mechanisms by which experience regulates synaptic plasticity in the brain. His work has demonstrated that Ube3a is required for experience-dependent maturation of the neocortex, and he continues to elucidate the synaptic basis of Angelman syndrome. Please visit Dr. Philpot’s website for more information, http://www.med.unc.edu/physiolo/faculty/philpot.


Fred Pritzker

Fred Pritzker is a practicing attorney and the father of a twenty-six year-old man with AS. Although a non-scientist, Mr. Pritzker has served on the ASF-SAC for three years. He is an active member of the SAC and, along with other members, evaluates funding requests. He is also a regular attendee of scientific symposia pertaining to AS. Mr. Pritzker has also played a role in the evolution of ASF scientific funding strategies and policies including the targeting of specific research topics and the groundwork for an Angelman syndrome research institute.


Jane Summers, PhD

Dr. Summers is an Assistant Professor in the Department of Psychiatry and Behavioural Neurosciences at McMaster University and is Clinical Director of behavioral therapy services for children with developmental disabilities at McMaster Children's Hospital. She has been a member of the Scientific Advisory Committee since 2006. Dr. Summers has published papers on sleep and behavior problems in children with Angelman syndrome and training parents to implement ABA teaching procedures with their children. She has received grants from the ASF to study the effectiveness of ABA-based approaches for teaching functional skills to children with Angelman syndrome and to develop a battery to assess children’s learning, memory and motor performance.


Ron Thibert, DO, MsPH

Dr. Thibert received his Masters degree in Epidemiology from the University of Massachusetts School of Public Health and his medical degree from the Kansas City University of Medicine and Biosciences. He did his General Pediatric training in the Henry Ford Health System in Detroit, MI, and then completed a Child Neurology residency at the Floating Hospital for Children and Children’s Hospital Boston in Boston, MA. He then completed a two-year fellowship in Pediatric Epilepsy and Clinical Neurophysiology at Massachusetts General Hospital. Dr. Thibert is now on staff in the Pediatric Epilepsy Program at the Massachusetts General Hospital for Children where he is the Co-Director of the Angelman Syndrome Clinic, coordinates the Pediatric Epilepsy Surgery Program, and is a faculty member at Harvard Medical School. His current research projects include a retrospective study assessing the natural history and treatment options for epilepsy in Angelman syndrome, a prospective study assessing the efficacy of the Low Glycemic Index Treatment for seizures in Angelman syndrome, and another study assessing the significance of EEG findings in Angelman syndrome.


Elizabeth Thiele, MD, PhD

Elizabeth A. Thiele is Director of the Pediatric Epilepsy Program and the Director of the Carol and James Herscot Center for Tuberous Sclerosis Complex at Massachusetts General Hospital. Previously she was Director and Founder of the Tuberous Sclerosis Comprehensive Clinic and Ketogenic Diet Clinic at Children’s Hospital in Boston. Dr. Thiele is also Associate in Neurology and Pediatrics at Massachusetts General Hospital and Associate Professor of Neurology at Harvard Medical School.

Dr. Thiele is currently on the Board of Directors of the Tuberous Sclerosis Alliance, as well as the Professional Advisory Board. She is also a member of the American Epilepsy Society, the Child Neurology Society, the Greater Boston Epilepsy Society and on the Scientific Advisory Board of the Angelman Syndrome Foundation.

In 2002, Dr. Thiele received the Partners in Excellence Award from the Partners Healthcare System for her establishment of a ketogenic diet program at the Massachusetts General Hospital to help treat and manage patients. Dr. Thiele has received awards for teaching in residency programs at Mass. General Hospital and the Longwood Neurology Program, and was nominated for a Humanism in Medicine Award from Harvard Medical School.

Dr. Thiele received her A.B., scl from Washington University, St. Louis in 1983 and her M.D. and Ph.D. from The Johns Hopkins University School of Medicine in 1990. She completed a residency in pediatrics at The Johns Hopkins Hospital in Baltimore and a residency in child neurology with the Longwood Program and Children’s Hospital in Boston. In addition, she completed a neuroscience fellowship at Children’s Hospital in Boston. Dr. Thiele is board certified in neurology with a special qualification in child neurology, and in clinical neurophysiology.

Dr. Thiele’s clinical research interests include: dietary therapy in epilepsy, Tuberous Sclerosis Complex, and Angelman syndrome.


Coral Thompson, BSc., RT

After graduating from the University of Alberta in Medical Laboratory Science, Ms. Thompson worked for 19 years as a University Research Technologist in Medical Bacteriology and Biochemistry. Her two main areas of research over this time period were Diabetes and AIDS. In 1992 her son Trent was born with Angelman syndrome and Ms. Thompson retired from the lab and full time research. Her interest in Angelman syndrome has kept her current and up to date on the latest AS medical research. A member of the scientific advisory board since 2001, she co-chaired the 2003 Scientific Symposium at the IASO/ASF conference in Washington D.C.


Wen-Hann Tan, MD

I am a clinical geneticist and the Boston site principal investigator of an Angelman Syndrome Natural History Study. This is a multi-center study coordinated jointly through Baylor College of Medicine and the University of Alabama at Birmingham within the Angelman / Prader-Willi / Rett syndrome consortium, which is one of the consortiums in the NIH Rare Diseases Clinical Research Network. This Network was initiated and funded by the NIH in November 2003 to support clinical research into a selected number of rare diseases.

In addition, I am conducting a phase I/II clinical trial investigating the use of levodopa/carbidopa in children with Angelman syndrome. Phase II of this trial is currently underway at seven study sites across the country (Boston, Greenwood, Nashville, Houston, San Diego, San Francisco, and from July 2012, Cincinnati).


Stormy Chamberlain

Stormy Chamberlain, Ph.D., is a widely published, 10-year researcher in the field of Angelman syndrome and UBE3A, who has given more than 30 talks and lectures about a variety of related topics. Dr. Chamberlain is currently an assistant professor in the University of Connecticut’s Genetics and Developmental Biology department, and is assistant director for UConn’s Graduate Program in Genetics and Developmental Biology.

Dr. Chamberlain established her own lab at UConn in 2009, using induced pluripotent stem cells (iPSC) to model and study human imprinting disorders, focusing on Angelman syndrome, Prader-Willi syndrome, and Duplication 15q syndrome. Her lab works closely with Dr. Marc Lalande’s lab and currently has two major on-going projects. She is also a frequent collaborator with other high-profile Angelman syndrome researchers. In addition to the ASF Scientific Advisory Committee, Dr. Chamberlain serves on the Dup15q Alliance Scientific Advisory Board and on the International Journal of Medical Genetics Editorial Board. Dr. Chamberlain earned her B.A. in Molecular Biology from Princeton University and her Ph.D. in Molecular Genetics from the University of Florida, and conducted post-doctoral work at the University of North Carolina and UConn Health Center. For more about Dr. Chamberlain, please click here.


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