The ASF Scientific Advisory Committee (SAC) is responsible for overseeing research grants funded by the ASF. The ASF SAC is currently comprised of 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. 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.
Stormy Chamberlain, PhD Assistant Director for UConn’s Graduate Program in Genetics and Developmental Biology.
Stormy Chamberlain, PhD
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.
Arthur Beaudet, MD Professor and Chair in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston.
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.
Charles Williams, MD Professor of Pediatrics and Genetics in the Department of Pediatrics, University of Florida
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.
Ben Philpot, PhD Assistant Professor in Cell and Molecular Physiology at the University of North Carolina
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.
Michael Ehlers, MD, PhD Executive Vice President for Research & Development at Biogen
Michael Ehlers, MD, PhD
Michael Ehlers is Executive Vice President for Research & Development at Biogen, one of the largest and most successful biotechnology companies in the world. Dr. Ehlers grew up rural Nebraska and earned his bachelor’s degree in chemistry from Caltech. He holds M.D. and Ph.D. degrees from the Johns Hopkins University School of Medicine.
Prior to joining Biogen in 2016, Dr. Ehlers was Senior Vice President for BioTherapeutics and Chief Scientific Officer for Neuroscience at Pfizer where he led the transformation of the Neuroscience and Rare Disease portfolios at Pfizer successfully bringing 22 compounds into the clinic, as well as directing global activities in biologics design, synthesis, and production, and steering a network of academic collaborations focused on immunology and oncology. Before entering his industry career in 2010, Dr. Ehlers was the George Barth Geller Professor of Neurobiology and an Investigator of the Howard Hughes Medical Institute at Duke University Medical Center, where he pioneered studies on neuronal organelles and the trafficking of neurotransmitter receptors. Dr. Ehlers’ current research focuses on the interface between neuronal cell biology, the plasticity of neural circuits, and neurological disease.
At Biogen, Dr. Ehlers directs global research and development including discovery sciences, drug design, translational medicine, and clinical development, with a focus on neurological diseases. He has advanced 18 novel clinical candidate compounds and oversaw the approval of SPINRAZA (nusinersin), the first drug approved for spinal muscular atrophy. He is the recipient of numerous awards including the 2003 Eppendorf & Science Prize in Neurobiology, the 2007 John J. Abel Award in Pharmacology, the 2007 Society for Neuroscience Young Investigator Award, an NIMH MERIT Award, and the 2009 National Alliance for Schizophrenia and Depression Distinguished Investigator Award. He received the 2008 Breakthrough Research Award of the North Carolina Biotechnology Center given to a single scientist in North Carolina, and the 2016 Biomedical Research Award of the Massachusetts Medical Society given to a single business leader in New England. In 2013 he became the 11th recipient of the Thudichum Medal of the Biochemical Society of the United Kingdom an award inaugurated in 1974 to honor eminent scientists who have made outstanding contributions to neurochemistry and related subjects, whose recipients include two Nobel laureates.
Dr. Ehlers has authored over 100 scientific papers, has served on the Editorial Boards of Annual Reviews in Medicine, Annual Reviews in Pharmacology and Toxicology, the Journal of Neuroscience, the Journal of Biological Chemistry, and Molecular and Cellular Neuroscience, and sat on advisory committees of the National
Institutes of Health. He is a member of the American Society for Cell Biology Governing Council, the Janelia Research Institute Advisory Committee, and the McKnight Endowment Fund for Neuroscience Board of Directors. He serves on the advisory boards of several private foundations, and advises major pharmaceutical, venture, academic, government, and biotech organizations.
Dan Harvey, PhD Chief Operating Officer of Dart NeuroScience LLC
Dan Harvey, PhD
Dan Harvey was appointed to the ASF Board of Directors in 2012 and previously served as chair 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.
Jane Summers, PhD Assistant Professor in the Department of Psychiatry and Behavioural Neurosciences at McMaster University
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.
Steven Katz, MD Coalition of Patient Advocacy Groups for the Rare Disease Clinical Research Network
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.
Wen-Hann Tan, MD Clinical Geneticist at Boston Children’s Hospital
Wen-Hann Tan, MD
Dr. Tan is a clinical geneticist at Boston Children’s Hospital who has been conducting clinical research studies on Angelman syndrome since 2006 as a site PI of the natural history study and a few clinical trials. He has a broad interest in all genetic syndromes in children and adults, including the different “Angelman-like” disorders. He is actively involved in the development of novel outcome measures for use in Angelman syndrome clinical studies. He is also actively involved in clinical trials in children and adults with inborn errors of metabolism.
Mark Nespeca, MD Director of the EEG Laboratory at Children’s Hospital San Diego
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.
Fred Pritzker Practicing Attorney
Fred Pritzker is a practicing attorney and the father of a thirty-one year-old man with AS. He is a former president of the Angelman Syndrome Foundation and a long-time member of the ASF-SAC. 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.
Ron Thibert, DO, MsPH Co-Director of the Angelman Syndrome Clinic, Massachusetts General Hospital for Children
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.
Coral Thompson, BSc., RT Member of The Scientific Advisory Board
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.
Katharine Grugan, PhD Scientist, Johnson and Johnson, Pharmaceutical Division
Katharine Grugan, PhD
Katharine Grugan received her doctorate in cell and molecular biology from Northwestern University in 2007. She has more than 17 years of biomedical research experience focused on oncology, immunology and the development of antibody therapeutics. Since 2011, she has been a scientist at Johnson and Johnson in their pharmaceutical division. She became passionate about the AS research field upon the diagnosis of her 10 month old daughter in 2011. Katharine resides outside of Philadelphia with her husband Kevin and three children.
Elizabeth Berry-Kravis MD, PhD Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago
Elizabeth Berry-Kravis MD, PhD
Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago. She has directed the Fragile X Clinic and Research Program since 1991, providing care to over 600 patients with fragile X syndrome (FXS). She has studied medical issues, epilepsy and psychopharmacology in FXS, and done translational research in FXS including outcome measures and biomarkers, natural history, newborn screening, and clinical trials of new targeted treatments in FXS.
Recently, Berry-Kravis has expanded clinical and translational work to other neurodevelopmental disorders including autism spectrum disorders, and single gene ASD models, including Phelan McDermid syndrome, Rett syndrome and Angelman syndrome. She also is working on translational research in rare neurogenetic disorders including Niemann-Pick type C, Battens disease, pantothenate kinase-associated neurodegeneration, and creatine transporter deficiency. She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, AAN Sidney Carter Award in Child Neurology and John Merck Fund Sparkplug Award.
Rebecca Burdine, PhD Faculty Member, Department of Molecular Biology at Princeton University
Rebecca Burdine, PhD
Rebecca Burdine is a faculty member in the Department of Molecular Biology at Princeton University. Her lab focuses on understanding the mechanisms that control left-right patterning and asymmetric organ morphogenesis. She was named the 44th Mallinckrodt Scholar for the Edward Mallinckrodt Jr. Foundation, and received a Scientist Development Career Award from the American Heart Association in 2003. She was elected as fellow to the American Association for the Advancement of Science (AAAS) in 2018. She is on the Editorial board for Cell Reports and Zebrafish, and regularly serves on grant review panels for the NIH and NSF.
Dr. Burdine is a parent to a child with Angelman Syndrome. She first served on the ASF scientific advisory committee in 2007 by invitation from Dr. Joe Wagstaff. She has previously served as Chief Scientific Officer for the Pitt-Hopkins Research Foundation and for the Foundation for Angelman Syndrome Therapeutics. She is currently serving on the steering committee for the Angelman Syndrome Natural History study and on the Clinical Trial Steering Committee for the STARS and NEPTUNE studies conducted by Ovid Therapeutics.
Joseph P Horrigan, MD Consulting Associate Professor at the Duke University Center for Autism and Brain Development in Durham, North Carolina.
Joseph P Horrigan, MD
Joseph P. Horrigan, MD, is a pediatric neuropsychiatrist. He has specialized in the treatment of children with complex neurodevelopmental disorders for more than 30 years. In addition, he has 24 years of experience in the various roles associated with the pharmaceutical and biotech industries, both as a clinical investigator and as a sponsor.
Dr. Horrigan was a Senior Director in the Neurosciences Medicines Development Center at GlaxoSmithKline, where he also co-founded and led the company-wide Medicines for Children Advisory Network that collaborated with all therapeutic areas in the company. Dr. Horrigan also served as Assistant Vice President and Head of Medical Research for Autism Speaks, the largest science and advocacy organization in the U.S. devoted to autism spectrum disorders (ASD). He subsequently served as Vice President of Clinical Development and Medical Affairs for Neuren Pharmaceuticals Limited, leading that company’s pioneering clinical development efforts in neurodevelopmental disorders such as Rett syndrome and Fragile X syndrome, as well as in traumatic brain injury. Dr. Horrigan is currently the Chief Medical Officer for AMO Pharma Ltd., an emerging biopharmaceutical company that is focusing on orphan diseases, neuromuscular and neurodevelopmental disorders with significant unmet medical needs.
Dr. Horrigan received his Sc.B. degree from Brown University and his medical degree from the University of Rochester. Dr. Horrigan has been a longstanding scientific advisor to FRAXA, he is a newly-elected Board member of Rettsyndrome.org, and he is also a Consulting Associate Professor at the Duke University Center for Autism and Brain Development in Durham, North Carolina.
Anjali Sadhwani, PhD Attending Psychologist, Department of Cardiology and Instructor of Psychiatry, Harvard Medical School
Anjali Sadhwani, PhD
Dr. Anjali Sadhwani is a pediatric psychologist at Boston Children's Hospital (BCH) and Assistant Professor in Psychiatry at Harvard Medical School. She is passionate about working with children with complex medical and developmental challenges. She has been conducting clinical research in Angelman syndrome (AS) since 2010. She is the lead psychologist of the FDA funded Natural History study and has extensive experience administering neurodevelopmental and behavioral measures to this population. She has published a few articles examining the neurodevelopmental outcomes of individuals with Angelman syndrome.
Jason Yi, PhD Assistant Professor, Department of Neuroscience and Investigator, Intellectual and Developmental Disabilities Research Center at Washington University School of Medicine
Jason Yi, PhD
Dr. Jason Yi is an Assistant Professor in the Department of Neuroscience and an Investigator in the Intellectual and Developmental Disabilities Research Center at the Washington University School of Medicine in St. Louis, MO. He received his Ph.D. in Pharmacology at Duke University and completed postdoctoral training at the University of North Carolina at Chapel Hill.
Dr. Yi is known for his pioneering work in understanding the contribution of UBE3A genetic variants to Angelman syndrome and autism spectrum disorder. He is a Bridge to Independence Fellow of the Simons Foundation and an Alfred P. Sloan Foundation Research Fellow.
Martin Scheffner, PhD Professor of Biochemistry, University of Konstanz
Martin Scheffner, PhD
Martin received his PhD in Molecular Genetics at the University of Konstanz, Germany. As a postdoctoral fellow in the group of Dr. Peter M. Howley (then at the NIH/NCI, Bethesda, MD, USA), he demonstrated that the E6 protein of cancer-associated human papillomaviruses targets the tumor suppressor p53 for degradation via the ubiquitin-proteasome system, providing a novel mechanism of action for oncoproteins. For six years, Martin was a principal investigator at the German Cancer Research Center (DKFZ), Heidelberg. During this time, his group was instrumental in identifying/characterizing a family of ubiquitin ligases termed HECT domain proteins, the founding member of which is E6AP encoded by the UBE3A gene. From 1999-2003, he was Associate Professor for Biochemistry at the Faculty of Medicine of the University of Cologne, Germany.
Since January 2004, Martin is Professor of Biochemistry at the University of Konstanz. His research focuses on biochemical and physiological aspects of modification of proteins by ubiquitin ("ubiquitination"), with a special emphasis on the role of the ubiquitin-conjugation system in human disorders.
Christy Zigler, PhD Assistant Professor in the Department of Population Health Sciences at Duke University School of Medicine
Christy Zigler, PhD
Dr. Zigler is an Assistant Professor in the Department of Population Health Sciences at Duke University School of Medicine. A psychometrician and statistician by training, she uses rigorous, patient-centered methods to develop and evaluate clinical outcome measures. Specifically, her primary interest is in designing tools for children with rare diseases so that their voices and the voices of their families can be prioritized in research.
Dr. Zigler led the team that developed the Localized Scleroderma Quality of Life Instrument (LoSQI), the first patient-reported outcome (PRO) developed specifically with and for children with localized scleroderma/morphea. Currently, she is collaborating with multidisciplinary teams to adapt the measure for adults and perform cross-cultural validation/translation of the measure into a number of languages. Dr. Zigler was also part of the team that developed the Observer-Reported Communication Ability (ORCA) measure through a partnership with the Foundation for Angelman Syndrome Therapeutics (FAST). The ORCA measure was designed for use in clinical trials to capture caregiver perceptions of communication ability for individuals with Angelman syndrome, a rare neurodevelopmental disorder. Dr. Zigler is currently working on methods to scale up the ORCA measurement model and gather sufficient validity evidence for its use in other neurodevelopmental disorders with similar communication impacts. She also is a co-investigator on the Clinical Outcome Assessments for Acute Pain Therapeutics in Infants and young Children (COA-APTIC) study, funded by the U.S. Food and Drug Administration.
Dr. Zigler received her PhD in Research Methodology from the University of Pittsburgh and her MSEd in counseling psychology from the University of Miami. She has been involved in research for almost 15 years and has published applied work in rheumatology, pediatrics, human engineering, veterans’ affairs, and rehabilitation science. Her current research interests include using mixed methods to explore meaningful changes in patient-reported outcome scores, small sample size statistical methods, and anchoring vignettes.