Angelman Syndrome @UNC

Dr. Ben Philpot is the Associate Director of the UNC Neuroscience Center and the co-Director of the T32 Postdoctoral Training Program in Neurodevelopmental Disorders. His lab seeks to understand the pathophysiology underlying monogenic neurodevelopmental disorders, and they use this information to develop therapeutics to treat these disorders. His lab is currently developing gene therapy and small molecule therapies for Angelman syndrome.

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Dr. Mark J. Zylka is the Director of the UNC Neuroscience Center. His research is focused on studying genetic and environmental risks for autism. His lab is developing a Crispr/Cas based gene therapy for Angelman syndrome.

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Bryan L. Roth M.D., Ph.D. is the Michael Hooker Distinguished Professor of Protein Therapeutics and Translational Proteomics in the Department of Pharmacology at the University of North Carolina at Chapel Hill Medical School. Dr. Roth has published more than 300 papers and has given more than 200 invited talks.

Dr. Roth has served on the editorial boards of many major scientific journals including the Journal of Biological Chemistry, Molecular Pharmacology, the Journal of Pharmacology and Experimental Therapeutics, ACS Medicinal Chemistry Letters, The Journal of Receptors and Signal Transduction Research, the Journal of Neurochemistry, Pharmacology and Therapeutics, Psychopharmacology and Neuropsychopharmacology. Dr Roth is currently Associate Editor for the Journal of Pharmacology and Expermental Therapeutics. Dr. Roth is also a member of Faculty of 1000.

Dr. Roth is a frequent consultant to major pharmaceutical and biotechnology companies, has served as a regular member for three separate NIH Study section and as Chair of the Molecular Libraries Screening Centers Review Group. Dr. Roth’s work has led to the successful filing, awarding and commercial licensing of several US and Worldwide Patents for novel candidate medications for the treatment of psychiatric and neurological medications.

Dr. Roth is principal investigator of the NIMH-supported National Collaborative Drug Discovery Group (which is a collaborative effort between UNC, Duke University and Pfizer Pharmaceuticals; U19MH082441) and the NIMH Psychoactive Drug Screening Program (NO1MH32004).

Dr. Roth has received a number of honors including the PhRMA Foundation Excellence in Pharmacology Award, the Irving Page Lecture, a NARSAD Distinguished Investigator Award, the Heffter Foundation Award for Basic Science Research, the Lowenthal Lecture (Medical College of Virginia), a Prestige Lecture (Université de Montréal), the SG Fergusson Memorial Lecture (Robarts Institute), the Chauncy Leake Memorial Lecture (Univ Texas Medical Branch), a Yale BSTP Distinguished Lecturer, an National Institute of Mental Health Career Development Award, a Dana Foundation Fellowship in Neurosciences (Stanford University) and Phi Beta Kappa (St. Louis University).

Dr. Roth’s work has been highlighted and Dr. Roth has been interviewed about his work in the New York Times, the Wall Street Journal, National Public Radio’s All Things Considered, CBS Early Program, MSNBC, the Los Angeles Times and a large number of other media outlets. One of Dr. Roth’s most recent publications (Keiser et al, Nature, 2009) was listed as one of the ‘Top 10 Scientific Achievements of 2009’ by Wired Magazine.

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Dr. C.J. Malanga earned his B.A from Swarthmore College in 1989, and his M.D. and Ph.D. in Pharmacology & Toxicology from West Virginia University in 1997. After completing residency training in Child Neurology at the Massachusetts General Hospital, he pursued a postdoctoral research fellowship in the laboratory of Dr. Barry Kosofsky at Harvard Medical School before coming to UNC in 2005. He is currently an Assistant Professor in the Department of Neurology and a member of the Neurobiology Curriculum, the UNC Bowles Center for Alcohol Studies (CAS) and the Carolina Institute for Developmental Disabilities (CIDD). Dr. Malanga studies the development and function of brain circuits involved in reward perception and reinforcement of motivated behaviors. His laboratory studies mouse models of human neurodevelopmental disorders, including prenatal exposure to drugs of abuse and genetic mutations relevant to the study of autism. His recent research focuses on the neuropharmacology of Angelman syndrome, fragile X syndrome, and fetal alcohol syndrome.

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Dr. Hahn's laboratory has focused on developing and applying new technologies to visualize the dynamics of signaling in living cells and animals, with emphasis on motility and GTPase signaling. We have pioneered approaches to study protein conformational changes in vivo, including different biosensor designs, control of protein activity in vivo with light, image analysis methods for multiplexed imaging, and methods to image endogenous protein activity in vivo. Recently we are focused on engineering allosteric activation to manipulate kinase activity in animals. Our laboratory aims to apply these novel technologies to proteins implicated in autism and Angelman syndrome to define and clarify their roles in neurodevelopmental disorders.

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Dr. Graham Diering earned his Ph.D. in biochemistry and molecular biology from the University of British Columbia in 2011. He then went onto postdoctoral training with Dr. Richard Huganir in the Dept. of Neuroscience at Johns Hopkins University. Dr. Diering joined the Dept. of Cell Biology and Physiology and UNC Neuroscience center as an assistant professor in 2017. The Diering lab is focused on understanding the basis by which sleep supports learning and memory, and the role of sleep in brain development using mouse model systems. The lab is also heavily focused on understanding and treating sleep disruption associated with neurodevelopmental disorders, including Angelman syndrome.

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Dr. Hiroyuki Kato received his Ph.D. in Neuroscience from University of Tokyo where he worked with Dr. Toshiya Manabe to learn electrophysiology. He completed his postdoctoral work with Dr. Jeffry Isaacson in UCSD, where he learned in vivo imaging/recording techniques in awake, behaving mice. He started his lab in 2017 as an Assistant Professor in the Department of Psychiatry and the UNC Neuroscience Center. Dr. Kato studies how the brain processes sound inputs to detect complex patterns, such as our language. Using mouse auditory cortex as a model system, the lab combines multiple cutting-edge techniques to dissect the circuits that connect vocal inputs to behavioral outputs. Through examination of these circuit functions in the mouse disease model, he is investigating for the circuit basis underlying Angelman syndrome.