Joseph D. Buxbaum - Drug Discovery in Autism: A Precision Medicine Approach
Joseph D. Buxbaum, PhD is a Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience, and serves as the Director of the Seaver Autism Center for Research and Treatment and is the Deputy Chair of the Department of Psychiatry. Dr. Buxbaum is a renowned molecular geneticist whose research aims to understand the molecular and genetic basis of autism spectrum disorder and other neurodevelopmental disorders, with the goal of developing novel therapeutics. Dr. Buxbaum is a founder and communicating Principal Investigator of the Autism Sequencing Consortium, currently analyzing whole exome sequencing from 38,000 individuals to identify ASD genes. In addition, his lab has numerous human stem cell lines ongoing and has characterized more than a dozen rodent models for ASD and associated disorders. Dr. Buxbaum received his BSc in Math and Biology from Touro College, and his MSc and PhD in Neurobiology from the Weizmann Institute of Science in Israel. Dr. Buxbaum completed a Postdoctoral Fellowship in Molecular and Cellular Neuroscience at the Rockefeller University. Dr. Buxbaum was elected to the National Academy of Medicine in 2015.
Randall L. Carpenter, MD - Translating Basic Science Discoveries into Therapeutics for Idiopathic Autism
Randall L. Carpenter, MD has over 25 years of leadership experience in academics, medicine, research and pharmaceutical drug development. He is currently Chief Scientific Officer of the Rett Syndrome Research Trust and Executive Vice President Clinical Development for Quadrant Biosciences, Inc. Most recently, he founded Seaside Therapeutics to translate basic science discoveries into novel therapeutics for autism, fragile X syndrome and intellectual disability. While in industry, he led translational medicine teams responsible for 8 successful IND submissions and over 60 GCP-compliant clinical trials. Prior to joining industry, his academic focus was in translational medicine. Dr. Carpenter is currently a Research Affiliate in the Department of Neuroscience at MIT, a member of the Scientific Advisory Board of EU-AIMS and a member of the External Advisory Board for the Translational Neuroscience Center at Boston Children's Hospital.
Monica Coenraads - Rett Syndrome: Roadmap to a Cure
Monica Coenraads’ involvement with Rett Syndrome began the day her then two-year-old daughter was diagnosed with the disorder. A year later, in 1999, she co-founded the Rett Syndrome Research Foundation (RSRF) and held the position of Scientific Director during the eight years of the Foundation’s drive to stimulate scientific interest and research in Rett Syndrome, culminating with the groundbreaking work in 2007 which demonstrated the first global reversal of symptoms in preclinical models of the disorder. Monica launched the Rett Syndrome Research Trust in late 2008 to pursue the next steps from that milestone. As Executive Director she oversees all aspects of the organization, including day-to-day operations, strategic direction, fundraising and communications.
Silvia De Rubeis - A Translational Approach to DDX3X Syndrome
Silvia De Rubeis, PhD studies developmental defects resulting from disruptive mutations in novel high-risk genes identified from genomic studies in autism and intellectual disabilities. She takes a genetics-first approach for functional analyses in cellular and mouse models and strives to take into account clinically relevant patient-based research.
Elodie Drapeau - Genetic, Molecular and Phenotypic Characterization of FOXP1 Syndrome
Elodie Drapeau, PhD focuses her research on understanding the mechanisms underlying the pathogenesis of neurodevelopmental and neurodegenerative disorders such as autism, schizophrenia and Alzheimer’s disease, using a multi-disciplinary approach ranging from animal models with targeted mutations to the use induced pluripotent stem cells and induced neurons from patients with autism or schizophrenia.
Alex Kolevzon - Biomarker Discovery in Neurodevelopmental Disorders: Strategies for Clinical Trial Readiness
Alex Kolevzon, MD is a Professor of Psychiatry and Pediatrics and serves as the Clinical Director of the Seaver Autism Center and the Director of Child and Adolescent Psychiatry for the Mount Sinai Health System. Dr. Kolevzon is a world leader in clinical phenotyping and testing novel therapeutics in rare syndromes associated with ASD. He leads the Experimental Therapeutics Program at the Seaver Autism Center, which conducts studies that range from small pilot trials to multi-centered pivotal FDA studies and are funded internally, through industry, and through the National Institutes of Health. Dr. Kolevzon took the lead on the prospective assessment of Phelan-McDermid Syndrome (now with over 90 participants) and is the lead for the Phelan-McDermid Syndrome network of the Rare Disease Clinical Research Network.
Paige Siper - ADNP Syndrome: From Genes to Behavior
Paige Siper, PhD focuses on biomarker discovery and sensory processing using electrophysiological and behavioral approaches. Her studies focus on an electrophysiological technique known as a visual evoked potential, and a behavioral assessment developed at the Seaver Center known as the Sensory Assessment for Neurodevelopmental Disorders. Dr. Siper is using these tools, along with comprehensive clinical phenotyping, to identify biological and bio-behavioral markers of idiopathic and single-gene forms of autism.