Dr. Susan L. Santangelo is a psychiatric and genetic epidemiologist who joined Maine Medical Center and Maine Medical Center Research Institute in 2013 as the Director of the Center for Psychiatric Research. She received her Doctor of Science degree in Epidemiology from the Harvard School of Public Health, and previously held positions with Tufts University, New England Medical Center, Harvard Medical School, Harvard School of Public Health and the Massachusetts General Hospital, where she directed the Statistical Genetics and Genetic Epidemiology Laboratory within the Center for Human Genetic Research.
Dr. Santangelo has studied the genetics of autism spectrum disorders for over 20 years and that is now the major focus of her work. She is a nationally and internationally recognized expert on the genetics of autism spectrum disorders and her research has been funded by the National Institutes of Health, Department of Defense, National Alliance for Autism Research, the March of Dimes, Autism Speaks, and the NLM Family Foundation.
Dr. Santangelo is a member of the Autism Working Group and the Cross-Disorder Working Group of the Psychiatric Genomics Consortium (PGC), involving 800+ investigators from over 38 countries, which represents the largest biological experiment in the history of psychiatry.
A complete list of publications can be found on My NCBI
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Molecular autism. 2017; 8:21. PubMed [journal] PMID: 28540026, PMCID: PMC5441062
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J, Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nature genetics. 2017; PubMed [journal] PMID: 28504703
Neurophenotypes: Advancing Psychiatry and Neuropsychology in the “OMICS” Era Jagaroo V, Santangelo SL, editors. New York, NY 10013, USA: Springer; 2017. 306p. My Bibliography
Maier R, Moser G, Chen GB, Ripke S, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH. Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. American journal of human genetics. 2015; 96(2):283-94. PubMed [journal] PMID:25640677, PMCID: PMC4320268
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nature neuroscience. 2015; 18(2):199-209. NIHMSID: NIHMS672791 PubMed [journal] PMID: 25599223, PMCID: PMC4378867
Siegel M, Smith KA, Mazefsky C, Gabriels RL, Erickson C, Kaplan D, Morrow EM, Wink L, Santangelo SL. The autism inpatient collection: methods and preliminary sample description. Molecular autism. 2015; 6:61. PubMed [journal] PMID: 26557975, PMCID: PMC4640153
Lyall K, Constantino JN, Weisskopf MG, Roberts AL, Ascherio A, Santangelo SL. Parental social responsiveness and risk of autism spectrum disorder in offspring. JAMA psychiatry. 2014; 71(8):936-42. NIHMSID: NIHMS598739 PubMed [journal] PMID: 25100167, PMCID: PMC4126195