Susan Santangelo, Sc.D. Address: Massachusetts General Hospital Harvard Medical School Simches Research Building 185 Cambridge St., 6th floor Boston, MA 02114 Phone Number: (617) 726-7876 Email: ssantangelo@pngu.mgh.harvard.edu

Administrative Assistant: Mary Szkolka
Phone Number: (617) 643-5405
Email: mszkolka@pngu.mgh.harvard.edu

Dr. Santangelo is Associate Professor at both the Harvard Medical School (Psychiatry), and the Harvard School of Public Health (Epidemiology), where she has been a faculty member since 1994. She is Director of Statistical Genetics and Genetic Epidemiology in the Psychiatric and Neurodevelopmental Genetics Unit (PNGU), within the Center for Human Genetic Research at MGH.

A genetic epidemiologist, educated at Wellesley College and the Harvard School of Public Health, Dr. Santangelo's graduate training was supervised by Drs. Ming Tsuang, David Pauls, and Neil Risch. Her work is focused on gene finding and phenotype delineation for a number of psychiatric disorders, particularly schizophrenia and autism. Dr. Santangelo has also studied age-related macular degeneration, Tourette's syndrome and obsessive compulsive disorder, bipolar disorder, attention deficit disorder, and smoking and nicotine addiction.

Dr. Santangelo is currently the principal investigator of a NIH/NIMH funded R01 grant to map the genes underlying neurocognitive endophenotypes (also known as biomarkers) known to be associated with schizophrenia in a genetic isolate population in Nepal. She is a co-investigator in a transdisciplinary family/genetic study of smoking and nicotine use and dependence (TTURC), based at Brown University and Butler Hospital, and PI of a pilot project within the TTURC to investigate candidate genes for smoking and nicotine addition. She is a co-investigator on a program project grant (P50-SCOR) to investigate sex differences in fetal antecedents to depression, with Dr. Jill Goldstein, and PI of Project 1 of that SCOR to investigate the genetic contribution to hormonal fetal antecedents to sex differences in the brain in depression.

As a nationally and internationally recognized expert on the genetics of autism, Dr. Santangelo has served as an ad hoc member of the Scientific Advisory Board for the National Alliance for Autism Research (NAAR) since 1999, and continues in that role for Autism Speaks, since its merger with NAAR. She has also served on many National Institutes of Health special emphasis and regular review panels and, is currently a regular member of the Behavioral Genetics and Epidemiology Study Section. She serves on the Steering Committee of the Autism Consortium, and the editorial boards of Molecular Autism, and the American Journal of Medical Genetics Part B, Neuropsychiatric Genetics.

Dr. Santangelo was the recipient of a Career Development Award (K21) from the National Institute of Mental Health, to investigate autism, and has received grants for autism studies from The Medical Foundation, the March of Dimes Foundation the NLM Family Foundation, the Boston-based Autism Consortium, and the Department of Defense. For several years, she was a member of the Collaborative Linkage Study of Autism (CLSA), a multi-site collaborative genetic study of autism, with sites at Tufts/New England Medical Center, the University of Iowa, Vanderbilt University, and the University of North Carolina, where she was responsible for designing and carrying out the genetic linkage analyses at the Tufts/NEMC site of the CLSA.

Dr. Santangelo is currently involved in a number of ongoing autism research projects. She is the PI of a large-scale autism phenotype project designed to enroll and collect comprehensive behavioral phenotype data on hundreds of families over three years, with funding from the Autism Consortium. She is the PI of a grant from Autism Speaks to investigate genes controlling new protein synthesis in synaptic plasticity in an Iranian autism sample. She is PI of two mentored pre-doctoral fellowship awards: one from the National Alliance for Autism Research (NAAR) to investigate whether one or more of the six genes in the distal-less homeobox (Dlx) gene family contributes to the etiology of autism, and one from Autism Speaks to investigate maternal dietary and lifestyle risk factors for autism spectrum disorders. Dr. Santangelo is a co-investigator on a whole-genome scan for autism, using 500,000 SNP markers in 1200 families, sponsored by the Autism Consortium, and the Co-PI, with Dr. Vijaya Ramesh, of an R21 grant from NIMH to investigate genes in the mTOR pathway as candidates for autism. In 2008, Dr. Santangelo was the recipient, along with colleagues at the HSPH, of a grant from the Department of Defense to investigate maternal risk factors for autism spectrum disorders in children of the Nurses' Health Study II, and in early 2009, her post-doctoral fellow, Dr. Roksana Sasanfar, received one of only three grants from Autism Speaks to investigate the epidemiology of autism in developing countries (Iran).