Santangelo_Susan_BSusan L. Santangelo, ScD

Director, Center for Clinical and Translational Science

  • Center for Clinical & Translational Science
    509 Forest Ave, Suite 200B
    Portland, ME 04101


BA: Wellesley College
ScD: Harvard School of Public Health

Dr. Susan L. Santangelo is a psychiatric and genetic epidemiologist who joined Maine Medical Center and MaineHealth Institute for Research (MHIR) in 2013 as the Director of the Center for Clinical and Translational Science. 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. Currently, Dr. Santangelo is Research Professor of Psychiatry at Tufts University School of Medicine. A nationally and internationally recognized expert on the genetics of autism spectrum disorders, she is a member of the Autism Working Group and the Cross-Disorder Working Group of the Psychiatric Genomics Consortium, which involves 800+ investigators from over 38 countries, and represents the largest biological experiment in the history of psychiatry.

Dr. Santangelo also directs the Clinical Research Design, Epidemiology and Biostatistics Core of the Northern New England Clinical and Translational Research Network (NNE-CTR), based at MHIR and The University of Vermont. In that role she has been responsible for leading the successful development and rollout of our REDCap environment (, our OMOP research data warehouse (, and our participation in the National COVID Cohort Collaborative (N3C:, an open science community initiated by NCATS and CD2H to establish a national registry of patient-level data from many clinical centers in order to enable collaboration among clinicians, researchers, and data scientists to identify treatments and specialized care needs for patients with COVID-19.

Learn more about the Center for Clinical and Translational Science

A complete list of publications can be found on My NCBI

Large-Scale Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C; Autism Sequencing Consortium; iPSYCH-Broad Consortium, Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. 2020 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23.PMID:31981491.

Cross-Disorder Group of the Psychiatric Genomics Consortium. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell. 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020. PubMed PMID: 31835028.

Schwind, JS; Norman, SA; Brown, R; Hoffmann-Frances, R; Koss, E; Karmacharya, D; Santangelo, SL. Association Between Earthquake Exposures and Mental Health Outcomes in Phulpingdanda Village After the 2015 Nepal Earthquakes. Comm Mental Hlth J. Community Ment Health J. 2019 May 17. doi: 10.1007/s10597-019-00404-w. [Epub ahead of print] PMID: 31102165.

Schwind, JS; Formby, CS; Santangelo, SL; Norman, SA; Brown, R; Hoffmann-Frances, R; Koss, E; Karmacharya, D. Earthquake Exposures and Mental Health Outcomes in 4 years)Children and Adolescents from Phulpingdanda Village, Nepal: A Cross-Sectional Study. Child Adolesc Psychiatry Ment Health. 2018 Dec 20;12:54. doi: 10.1186/s13034-018-0257-9. PMID: 30598695.

Karahanoğlu FI, Baran B, Nguyen TQ, Meskaldji DE, Yendiki A, Vangel M, Santangelo SL, Manoach DS. Diffusion-weighted imaging evidence of altered white matter development from late childhood to early adulthood in Autism Spectrum Disorder. Neuroimage Clin. 2018 Jun 7;19:840-847. doi: 10.1016/j.nicl.2018.06.002. eCollection 2018. PMID: 29946509.

The Brainstorm Consortium. Analysis of shared heritability in common disorders of the brain. Science. 2018 Jun 22;360(6395 PMID: 29930110. doi: 10.1126/science.aap8757.

Pedersen, KA, Santangelo, SL, Gabriels, RL, Righi, G, & Siegel, M.  Behavioral Outcomes of Specialized Psychiatric Hospitalization in the Autism Inpatient Collection (AIC):  A Multisite Comparison.  Journal of Autism and Developmental Disorders, Published online 23 November, 2017.  DOI: 10.1007/s10803-017-3366-z [Epub ahead of print] PMID: 29170939.

Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium. 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; May 22; 8:21. DOI: 10.1186/s13229-017-0137-9.

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 12/2015; 6(1). DOI:10.1186/s13229-015-0054-8

Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat Neurosci. 2015 Feb;18(2):199-209. doi: 10.1038/nn.3922. Epub 2015 Jan 19. PMID: 25599223.

Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium, 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. Am J Hum Genet. 2015 Feb 5;96(2):283-94. doi: 10.1016/j.ajhg.2014.12.006. Epub 2015 Jan 29. PMID: 25640677.

Lyall KS, Constantino JN, Weisskopf MG, Roberts AG, Ascherio A, Santangelo SL. Parental social responsiveness and risk of autism spectrum disorder in offspring. JAMA Psychiatry, 2014; 71(8):936-42.

Chang SC, Pauls DL, Lange C, Sasanfar R, Santangelo SL. Sex-Specific Association of a Common Variant of the XG Gene with Autism Spectrum Disorders. Am J Med Genet Part B, Neuropsych Genet. 2013; Vol.162B:742–750. PMID: 24132906.001.

Cross-Disorder Group of the Psychiatric Genomics Consortium. Genetic relationship between Five Psychiatric Disorders Estimated from Genome-Wide SNPs. Nat Genet. 2013 September; 45(9): 984–994. Published online 2013 August 11. doi: 10.1038/ng.2711. PMCID: PMC3044641.

Cross-Disorder Group of the Psychiatric GWAS Consortium, Craddock N, Kendler KS, Lee PH, Neale BM, Nurnberger J, Ripke S, Santangelo SL, Smoller JW, Sullivan PF. Genome-wide Analysis Identifies Loci With Shared Effects on Five Major Psychiatric Disorders. The Lancet 01/2013; 381(9875):1371-1379. doi: 10.1016/S0140-6736(12)62129-1. PMID: 23453885.

Lyall K, Munger K, O’Reilley E, Santangelo SL, Ascherio A. Maternal dietary fat intake in association with autism spectrum disorders. Am J Epidemiology. 2013;178(2):209220 PMID: 23813699.

Karmacharya D, Yu D, Dixit S, Rajbhandari R, Subedi B,  Shrestha S, Manandhar S, Santangelo SL. A study of the prevalence and risk factors leading to HIV infection among a sample of street children and youth of Kathmandu. AIDS Res Ther. 2012 Aug 28;9(1):25. doi: 10.1186/1742-6405-9-25.  PMID: 22929124.

Lyall K, Pauls DL, Santangelo SL, Spiegelman D, Ascherio A. Fertility therapies, infertility, and autism spectrum disorders in the Nurses’ Health Study II. Paediatr Perinat Epidemiol. 2012 Jul;26(4):361-72. doi: 10.1111/j.1365-3016.2012.01294.x. PMID: 22686388.

Lyall K, Pauls DL, Spiegelman D, Ascherio A, Santangelo SL. Pregnancy complications and obstetric suboptimality in association with autism spectrum disorders in children of the Nurses’ Health Study II. Autism Research, 2012; Feb;5(1):21-30. DOI: 10.1002/aur.228. PMCID: PMC3253333.

Robinson EB, Munir K, McCormick MC, Koenen KC, Santangelo SL.  Brief Report: No Association Between Parental Age and Extreme Social-Communicative Autistic Traits in the General Population. J Autism Dev Disord. 2011 Dec;41(12):1733-7. DOI 10.1007/s10803-011-1202-4.  PMCID: PMC3160499.

Chang SC, Lange C, Pauls DL, Sasanfar R, Santangelo SL. Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders. Am J Med Genet Part B, Neuropsychiatr Genet. 2011 March; 156(2): 233–239. doi:10.1002/ajmg.b.31148. Epub 2010 Dec 16.  PMCID: PMC3088769.

Professional Activities

  • Member Tufts University Medical School MaineTrack Admissions Committee
  • Member Scientific Review Committee, Maine Medical Center
  • Member Psychiatric Genomics Consortium: Cross Disorder and Autism Working groups

Editorial Board Activities

  • Editorial Board Member, Molecular Autism
  • Editorial Board Member, American Journal Medical Genetics Part B, Neuropsychiatric Genetics

Professional Society Membership

  • 2006-present: International Society for Autism Research
  • 1998-present: International Society of Psychiatric Genetics
  • 1992-present: International Genetic Epidemiology Society
  • 1990-present: American Society of Human Genetics

Ad Hoc Member for NIH Study Sections

  •  Genetics, Health and Disease (GHD)
  • Behavioral Genetics and Epidemiology (BGES)
  • Autism Centers of Excellence Review Committee, NIH/NICHD, and other various special emphasis panels.