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The information collected through Simons Searchlight<\/span> research is freely accessible to qualified researchers who want to learn more about the genetic changes we study. Anonymous information from surveys, genetic testing reports, and the medical history interview is summarized and made available to researchers, along with blood or saliva samples. We’ve interviewed some of the investigators that have recently used Simons Searchlight<\/span> data.<\/p>\n <\/p>\n Learn more about these researchers below and read the interview about their research:<\/p>\n <\/p>\n Joseph Gleeson, M.D. <\/strong><\/em>–\u00a0University of California San Diego School of Medicine<\/p>\n<\/div> Joseph Gleeson, M.D. is a faculty member at <\/span>University of California San Diego<\/span><\/a> School of Medicine, and has been an attending physician at <\/span>Rady Children’s Hospital San Diego<\/span><\/a> since 1999. His research group is interested in the causes of autism and developing new treatments. Gleeson graduated from the University of Chicago Pritzker School of Medicine, and then trained in pediatrics, neurology, and neurogenetics at Boston Children’s Hospital and Harvard Medical School. He has a Research Match project that will open to the Simons Searchlight<\/span> community in May\/June 2021.<\/span><\/p>\n Read our interview with Dr. Gleeson\u00a0here<\/a>.<\/strong><\/p>\n<\/div> Siddharth Srivastava, M.D.<\/em>\u00a0<\/strong>– Pediatric Neurologist at Boston Children\u2019s Hospital<\/p>\n<\/div> Siddharth Srivastava, M.D., is a pediatric neurologist at Boston Children\u2019s Hospital and specializes in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations, such as autism, intellectual disability, cerebral palsy, and developmental regression. His group uses several approaches, including gene discovery, cognitive and behavioral phenotyping, and biomarker identification. At Boston Children\u2019s Hospital, he provides care to children in a variety of neurodevelopmental and neurogenetics clinics. He received his B.A. degree in biochemistry from Columbia University and his M.D. degree from Johns Hopkins University School of Medicine. He finished a combined residency in pediatrics and neurodevelopmental disabilities at Johns Hopkins Hospital and the Kennedy Krieger Institute. He completed a fellowship in neurogenetics at Boston Children\u2019s Hospital.<\/p>\n Read our interview with Dr. Srivastava\u00a0here<\/a>.<\/strong><\/p>\n<\/div> Anne T. Berg, Ph.D. <\/strong><\/em>–\u00a0Research Professor at Northwestern Feinberg School of Medicine<\/p>\n<\/div> Anne T. Berg, Ph.D<\/span>., is a Research Professor at Northwestern Feinberg School of Medicine and a member of the Epilepsy Center at Ann & Robert H. Lurie Children\u2019s Hospital of Chicago. Her research has focused on the \u201cnatural\u201d history and outcomes of seizures and epilepsy with a specific emphasis on three factors:<\/p>\n She was also a key researcher in the Multicenter Study of Epilepsy Surgery. Along with Susan Spencer and Barbara Vickrey, Berg contributed to the literature defining the seizure, psychiatric, cognitive, and quality of life outcomes of patients who underwent epilepsy surgery. In 2007, she played a pivotal role in focusing National Institute of Neurological Disorders (NINDS) research priorities on the cognitive, developmental, and behavioral co-morbidities of epilepsy, and she organized sessions at the American Epilepsy Society meeting to investigate these areas and identify research opportunities for improving patients\u2019 outcomes. In 2013, Berg co-chaired the NINDS-sponsored Curing Epilepsies conference and also organized and led the following workshops:<\/p>\n Currently, Berg spearheads the Precision Medicine Initiative for Epilepsy at Lurie Children\u2019s where she is leading efforts to restructure the electronic health record to support clinical care in the genetic era, reporting, quality improvement, and research. She leads the Natural History Project and the Ability Study, which are aimed at understanding the full effect and range of neurological, medical, behavioral, and other challenges for children and families affected by developmental epilepsies and encephalopathies, including SCN2A-DEE. Her goal is to perform research that provides the necessary evidence to support changes in practice that will improve the diagnosis, treatment, and management of these severe neurodevelopmental disorders and ultimately improve the lives of children and their families.<\/p>\n Read our interview with Dr. Berg\u00a0here<\/a>.<\/strong><\/p>\n<\/div> Vanessa Troiani, Ph.D.\u00a0<\/strong><\/em>–\u00a0Assistant Professor at Geisinger Autism and Developmental Medicine Institute<\/p>\n<\/div> Dr. Troiani is interested in how our inborn motivations change the activity in the brain and affect our attention and perception. Her research aims to understand the role of behavior and genetics in atypical motivation processes in the brain and how this contributes to psychiatric and neurodevelopmental disorders. Dr. Troiani studies the structure and function of brain regions that are involved in motivated attention. This includes reward-processing structures like the amygdala, nucleus accumbens, and orbitofrontal cortex. Her scientific worldview is multidisciplinary, as she is interested in how atypical motivation can happen in multiple disorders, from autism to obesity to addiction. Dr. Troiani uses a variety of techniques in this work, including psychophysics, eye tracking, brain imaging, electronic health record analysis, and genomics.<\/p>\n Read our interview with Dr. Troiani\u00a0here<\/a>.<\/strong><\/p>\n<\/div> Sylvie Goldman, Ph.D.\u00a0<\/strong><\/em>–\u00a0Developmental Neuropsychologist<\/p>\n<\/div> Sylvie Goldman is a developmental neuropsychologist. She is teaching faculty for the Parent-Infant Psychotherapy Program in Child Psychiatry at Columbia University Irving Medical Center.<\/p>\n Previously, she was faculty at Albert Einstein in the Department of Neurology and Pediatrics. She co-directed the National Institute of Health-Human Clinical Phenotype Core of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center. During her postdoctoral training under the mentorship of child neurologist, Isabelle Rapin, she developed a validated, highly cited test for the classification of motor stereotypies.<\/p>\n Goldman\u2019s clinical activities focus on early, comprehensive, diagnostic assessment of children who have neurodevelopmental disorders. She gained her clinical experience during her eight years as psychologist at the McCarton Center evaluating children aged 1 to 8 years.<\/p>\n Her research focuses on the use of technology to measure motor functions, especially walking, in children who have gene-based, neurodevelopment disorders with and without autism spectrum disorder (ASD). Her current project looks at gender and sex factors during the ASD diagnosis process, as well as related differences and delays in diagnosis of ASD in girls and minorities.<\/p>\n Read our interview with Dr. Goldman\u00a0here<\/a>.<\/strong><\/p>\n<\/div> Paul Wang, M.D.\u00a0<\/strong><\/em>–\u00a0Deputy Director of Clinical Research Associates, LLC (CRA)<\/p>\n<\/div> Paul Wang, M.D., is the Deputy Director of Clinical Research Associates, LLC (CRA), an affiliate of the Simons Foundation.\u00a0<\/span><\/span><\/span><\/span><\/span><\/span><\/span>Wang is a developmental-behavioral pediatrician, and he worked at CHOP from 1994-2002. He participated in the care of hundreds of children with developmental disabilities and genetic diagnoses, with a particular focus on Williams syndrome, Down syndrome, and the 22q11.2 del population.<\/p>\n Since leaving CHOP, Wang worked at Pfizer (on neurologic and psychiatric drug trials) and at Seaside Therapeutics, which was a biotech focused on Fragile X syndrome and autism. He later moved to Autism Speaks, and have been at the Simons Foundation<\/span> <\/span> <\/span> <\/span> <\/span> <\/span> <\/span> since 2016.<\/p>\n Wang finds it incredibly energizing to work in New York City, and to be surrounded by the fantastic scientists (and visitors) at the Foundation. But when the weekend comes, he’s much happier to be at home, with the woods and stream in my backyard.<\/p>\n Read our interview with Dr. Wang\u00a0here<\/a>.<\/strong><\/p>\n<\/div> Raphael Bernier, Ph.D.\u00a0<\/strong><\/em>–\u00a0Professor at the University of Washington\/Executive Director of the Seattle Children’s Autism Center<\/p>\n<\/div> Raphael Bernier, Ph.D., is a professor at the University of Washington and the Executive Director of the Seattle Children’s Autism Center.<\/p>\n <\/p>\n Bernier\u00a0received his BS from Tufts University and then completed his MS degree from the University of Wisconsin.\u00a0 He then\u00a0received his PhD from the\u00a0University of Washington in 2007 and completed his clinical training in UCLA. He’s been a professor at University of Washington since the month after he graduated. Bernier has\u00a0been interested in the genetics and neuroscience of autism. His research focus has been on neurodevelopmental disorders and he has participated in clinical trials and behavioral research studies.<\/p>\n <\/p>\n Outside of work, his interests include spending time with his family and\u00a0being active. Bernier says he likes to complete “races of all sorts from multi-sport adventure races to\u00a0marathons and a whole bunch of things in between.”<\/p>\n\n
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