Researcher Profiles


The information collected through Simons Searchlight 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 data.


Learn more about these researchers below and read the interview about their research:



Joseph Gleeson, M.D. – University of California San Diego School of Medicine

Joseph Gleeson, M.D. is a faculty member at University of California San Diego School of Medicine, and has been an attending physician at Rady Children’s Hospital San Diego 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 community in May/June 2021.

Read our interview with Dr. Gleeson here.


Siddharth Srivastava, M.D. – Pediatric Neurologist at Boston Children’s Hospital

Siddharth Srivastava, M.D., is a pediatric neurologist at Boston Children’s 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’s 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’s Hospital.

Read our interview with Dr. Srivastava here.


Anne T. Berg, Ph.D. – Research Professor at Northwestern Feinberg School of Medicine

Anne T. Berg, Ph.D., is a Research Professor at Northwestern Feinberg School of Medicine and a member of the Epilepsy Center at Ann & Robert H. Lurie Children’s Hospital of Chicago. Her research has focused on the “natural” history and outcomes of seizures and epilepsy with a specific emphasis on three factors:

  • seizure outcomes,
  • developmental and cognitive consequences of epilepsies in children, and
  • the impact that all of these have on the quality of life of patients and families.

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’ outcomes. In 2013, Berg co-chaired the NINDS-sponsored Curing Epilepsies conference and also organized and led the following workshops:

  • Priorities in Pediatric Epilepsy Research: Improving Children’s Futures Today, Neurology, 2013
  • Seizure Burden in Severe Early-life Epilepsy: Perspectives from Parents, Epilepsia Open, 2019

Currently, Berg spearheads the Precision Medicine Initiative for Epilepsy at Lurie Children’s 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.

Read our interview with Dr. Berg here.


Vanessa Troiani, Ph.D. – Assistant Professor at Geisinger Autism and Developmental Medicine Institute

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.

Read our interview with Dr. Troiani here.


Sylvie Goldman, Ph.D. – Developmental Neuropsychologist

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.

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.

Goldman’s 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.

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.

Read our interview with Dr. Goldman here.


Paul Wang, M.D. – Deputy Director of Clinical Research Associates, LLC (CRA)

Paul Wang, M.D., is the Deputy Director of Clinical Research Associates, LLC (CRA), an affiliate of the Simons Foundation. 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.

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 since 2016.

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.

Read our interview with Dr. Wang here.


Raphael Bernier, Ph.D. – Professor at the University of Washington/Executive Director of the Seattle Children’s Autism Center

Raphael Bernier, Ph.D., is a professor at the University of Washington and the Executive Director of the Seattle Children’s Autism Center.


Bernier received his BS from Tufts University and then completed his MS degree from the University of Wisconsin.  He then received his PhD from the University 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 been 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.


Outside of work, his interests include spending time with his family and being active. Bernier says he likes to complete “races of all sorts from multi-sport adventure races to marathons and a whole bunch of things in between.”


Read our interview with Dr. Bernier here.


Jennifer Bain, M.D., Ph.D. – Assistant Professor in Child Neurology

Jennifer Bain, M.D., Ph.D., is an assistant professor in child neurology at Columbia University Medical Center. Bain completed both M.D. and Ph.D. as well as general pediatrics residency at Rutgers – New Jersey Medical School. She trained in child neurology at New York Presbyterian – Columbia University Medical Center and is a board certified neurologist with special certification in Child Neurology. Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic ischemic encephalopathy.

She currently works as a clinician at Columbia Doctors specializing in general pediatric neurology with expertise in development, behavioral neurology and autism. Her clinical research has focused on studying autonomic dysfunction in children with autism spectrum disorders as well as the gender disparity between girls and boys with an autism diagnosis. She is also very interested in the movement differences in children with autism. Bain authored a manuscript describing the first six girls with variants in the HNRNPH2 gene and is currently enrolling more individuals with HNRNPH2-related disorders to learn more about the natural course of this neurodevelopmental disorder.

Read our interview with Dr. Bain here.