Matthew P. Anderson, M.D., Ph.D. is Director of Neuropathology, Beth Israel Deaconess Medical Center; Neuropathologist of Autism BrainNet; and Faculty, Harvard Medical School Neuroscience PhD Program. He won the International Distinguished Dissertation Award (top PhD thesis in science in U.S.A. and Canada, awarded once every 5 years) for seminal work with HHMI Investigator Michael Welsh by uncovering the ion channel and regulatory functions of the cystic fibrosis gene product and the mechanisms of disease-causing mutations [published in Cell, Science (4), Nature (2), and PNAS (2)]. His postdoctoral fellowship at Massachusetts Institute of Technology with Nobel Laureate Susumu Tonegawa (somatic recombination to generate immune receptor and antibody diversity) led to training in immunology, neuroscience, Cre-LoxP conditional mouse molecular genetics, brain slice electrophysiology and synaptic physiology, in vivo electrophysiology, and behavioral neurosciences. At Harvard, his laboratory leverages these technologies to investigate the molecular, immunologic, and neuronal circuit basis of genetic forms of human neurological and psychiatric disease including autism spectrum disorder, intellectual disabilities, and epilepsy.

His laboratory identified the first human genetic epilepsy disorder with defective postnatal developmental pruning and maturation of glutamatergic circuits (Zhou et al. Nature Medicine 2009). They created the first genetic mouse model (Smith et al. Science TM 2011) of a frequent and strongly penetrant genetic autism spectrum disorder [maternal 15q11-13 triplications, idic(15); Glessner et al. Nature 2009; Finucane et al. Gene Review 2016]. Increased Ube3a gene dosage alone (a 15q11-13 gene expressed exclusively from the maternal allele in neurons) reconstituted the behavioral deficits resembling those in human autism (impaired social interaction and vocalization and increased repetitive behavior). We also reported that mice with maternal Ube3a deletions, modeling Angelman syndrome where there is clinical evidence of increased social motivation, are hypersocial in the same paradigms where mice with increased Ube3a gene dosages have impaired sociability (Stoppel et al. Experimental Neurology 2017). Maternal Ube3a deletion occluded the hypersociability triggered by brief periods of social deprivation. 

These findings establish UBE3A dosage strongly regulates social behaviors. Recently (Krishnan et al. Nature 2017), they applied transcriptional profiling, protein interaction network analysis, Cre-loxP conditional genetics, stereotaxic viral vectors, chemogenetics, and optogenetics to map the sociability deficits characteristic of autism that they found result from the actions of increased UBE3A in the cell nucleus They discovered that UBE3A and seizures synergize to repress Cbln1 gene expression and impair sociability. Cbln1 encodes a secreted synapse organizing protein that bridges presynaptic neurexin (Nrxn1) and postsynaptic glutamate delta receptor (Grid1), two genes deleted in autism. Loss of Cbln1 disrupts synapses of previously enigmatic glutamatergic neuron in the mesolimbic motivation circuits of the ventral tegmental area (VTA) to impair social behavior. We have also discovered that increased UBE3A generates elevated aggression in mice modeling the irritability found in autism. We have defined the specific synapse where NRXN1-CBLN1-GRID1 transsynaptic complex defects give rise to the elevated aggression in this mouse providing further evidence for the role of this molecular pathway in the pathogenesis of behavioral phenotypes. Enabled by his role at clinical neuropathologist for Autism Brain Net, his laboratory recently reported the novel discovery of T-cell immune dysregulation in about 65% of postmortem cases of autism spectrum disorder including evidence for the cytotoxic T-cell attack of the astrocyte CSF-brain barrier formed by glia limitans (DiStasio et al. Annals of Neurology 2019). A completely novel histopathologic feature the astrocyte membranous blebs correlated in quantity with the number of lymphocytes across the autism cases.

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PhD, Associate Professor of Cell Biology and Neuroscience.  Dr. Ferguson earned his Ph.D in Neuroscience from Vanberbilt University in 2004 and subsequently pursued postdoctoral studies at Yale University. Both of these training experiences focused on specialized membrane trafficking mechanisms that support synaptic transmission between neurons.

In 2010, he established his independent laboratory in the Department of Cell Biology at Yale School of Medicine which focuses on the intersection between fundamental cell biology questions and neurological disease mechanisms He currently holds the rank of Associate Professor (tenured) and has a secondary appointment in Neuroscience.

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Dr. Wendy Chung is an ABMG board certified clinical and molecular geneticist with 20 years of experience in human genetic research of monogenic and complex traits including diseases such as breast cancer, pancreatic cancer, congenital heart disease, pulmonary hypertension, inherited arrhythmias, cardiomyopathies, obesity, diabetes, congenital diaphragmatic hernias, and autism. She has extensive experience mapping and cloning genes in humans, and describing the clinical characteristics and natural history of novel genetic conditions and characterizing the spectrum of disease, and developing tailored care and treatments for rare genetic diseases.

Dr. Chung directs NIH funded research programs in human genetics of birth defects including congenital diaphragmatic hernia, congenital heart disease, and esophageal atresia, autism, neurodevelopmental disorders, pulmonary hypertension, cardiomyopathy, obesity, diabetes, and breast cancer. She leads the Precision Medicine Resource in the Irving Institute at Columbia University and is a member of the National Academy of Medicine. She has authored over 450 peer reviewed papers and 75 reviews and chapters in medical texts. 

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Swetha Gowrishankar, Ph.D., is an Assistant Professor at the Department of Anatomy and Cell Biology at the University of Illinois at Chicago (UIC). She is a Faculty Fellow of the Honors College and Faculty of the Graduate Program in Neuroscience, UIC. She has over fifteen years of experience investigating lysosome biology which includes her post-doctoral work studying axonal lysosome transport in the laboratories of Shawn Ferguson and HHMI Investigator Pietro De Camilli at Yale School of Medicine. She was a recipient of BrightFocus fellowship for research on Alzheimer’s disease and Cayman Woman in Research Grant. At UIC, her lab studies mechanisms underlying lysosome formation and function in neurons as well as mechanisms underlying lysosome dysfunction in neurodegenerative diseases such as Alzheimer’s disease and Hereditary Spastic Paraplegia. She addresses these questions using a multidisciplinary approach (imaging, biochemical techniques and proteomics) in mouse models of these diseases as well as iPSC-derived neurons.

Director, Hugh Kaul Precision Medicine Institute and Professor, UAB School of Medicine.  Dr. Might has been the Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB) since 2017. At UAB, he is the Hugh Kaul Kaul Endowed Chair of Personalized Medicine, a Professor of Internal Medicine and a Professor of Computer Science. His research at UAB focuses on precision prevention, diagnosis, and therapeutics across rare disease, cancer and common/chronic conditions. A principal theme in his research is the use of computer and data science to enhance clinical and academic medicine.

From 2016 to 2018, Dr. Might was a Strategist in the Executive Office of the President in The White House. At The White House, he worked primarily on President Obama’s Precision Medicine Initiative with both the NIH and the Department of Veterans Affairs. In 2015, Dr. Might joined the faculty of the Department of Biomedical Informatics at Harvard Medical School as a visiting professor. At DBMI, his research focused on rare disease discovery and diagnosis, and on the development of personalized therapeutics for rare disease.

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Dr Tim Yu – MD, PhD. Dr. Tim Yu is a neurologist and researcher in the Division of Genetics and Genomics at Boston Children’s Hospital, Associate Professor of Pediatrics at Harvard Medical School, and Associate Member of the Broad Institute of MIT and Harvard. His research group works at the intersection of genetics, neurobiology, and bioinformatics to explore the basis for neurologic disease and advance genomic medicine. Research interests range from large-scale computational analyses to uncover genes responsible for autism and rare pediatric neurogenetic disorders, to the application of whole genome sequencing for early detection of disease in newborns, to pioneering the development of individualized genomic medicines.