Autism

NOTE: The distribution refers to a collection of studies organized by disorder or theme (see FAQ).  It is important to note that not all individuals in the distribution have DNA available.

Given the major public health implications of identifying genes responsible for severe neuropsychiatric disorders, the National Institute of Mental Health (NIMH) has funded a Human Genetics Initiative. The goal of this Initiative is to establish a national resource of clinical data and biomaterials that are collected from individuals with autism, schizophrenia, bipolar I disorder, depression, obsessive-compulsive disorder, and other mental disorders. The NIMH Autism Genetics Initiative is supported by the Office of Human Genetics & Genomic Resources in NIMH's Division of Neuroscience and Basic Behavioral Science (DNBBS). Starting in 2001, data and biomaterials (cell lines and DNA samples) will be available to qualified investigators who study the genetics of autism, and may be accessed by following a set of instructions.

List of Studies

Available for Download

Study Title Distributions PIs Grants Sites Target Sample Size GWAS Notes Status
Study 4 Collaborative Linkage Study of Autism Autism Folstein (retired), Piven, Sutcliffe R01MH055135 60-61, 89 665

26 in exome seq dbGap ARRA; 12 in dbGaP AGP; 515 in NIMH AU DS3; 12 in dbGaP phs000436;

Released
Study 10 Collaborative Linkage Study in Autism Autism Folstein R01MH055135 62 4

4 in NIMH AU DS3;

Released
Study 14 Molecular Genetics of Infantile Autism Autism Myers R01MH052708 63 563

334 in NIMH AU DS3;

49 in dbGaP ARRA;

Released
Study 21 AGRE; A Genomewide Search for Autism Susceptibility Loci Autism Geschwind R01MH064547 72, 74 3908

442 in exome seq dbGap ARRA; 96 in dbGaP AGP; 16 in dbGap phs000639; 362 in NIMH AU DS3;

Released in AU Dist. 7.0
Study 30 A study of Autism Autism Rodier 158 50 Released in AU Dist. 5.0
Study 31 A study of Autism Autism Rodier 151 79 Released in AU Dist. 5.0
Study 32 A study of Autism Autism Szatmari 152 483

31 in exome seq dbGap ARRA;8 in dbGaP AGP;

Released in AU Dist. 5.0
Study 33 Longitudinal Study of Language and Theory of Mind in Autism Autism Tager-Flusberg P01DC003610 153 210

17 in NIMH AU DS3;

Released in AU Dist. 5.0
Study 34 Neurobiology and Genetics of Autism Autism Dawson U19HD035465 154 214

10 in dbGaP ARRA;

Released in AU Dist. 5.0
Study 35 Molecular and Genetic Epidemiology of Autism Autism Pericak-Vance R01MH080647 155 1220 Released in AU Dist. 8.0
Study 36 A study of Autism Autism McInnis 156 310

4 in exome seq dbGap ARRA;

Released in AU Dist. 5.0
Study 37 RUPP-PI Autism McDougle U10MH066766 157 133

27 in exome seq dbGap ARRA;

Released in AU Dist. 5.0
Study 39 A study of Autism Autism Brzustowicz RC1MH088288 161 Released in AU Dist. 13.0
Study 41 The Development of the Siblings of Children with Autism: A Longitudinal Study Autism King, Hollander, Sigman, Piven, Volkmar, Tager-Flusberg, Hollander P50HD055784 700-707 438

7 in exome seq dbGap ARRA;

Site 702 still collecting samples, project end date is 31-MAY-2017; Sites 700-705, 707 were released in AU Dist 6.0
Study 44 Genetic Analysis of 15q11-q13 in Autism Autism Sutcliffe R01MH061009 165

 134 in dbGaP AGP; 71 in dbGaP phs000436;

Released in AU Dist. 12.0
Study 46 DM-STAT (data coordinating site for Studies 30, 31, 33, 34 & 41) Autism Dagher Released in AU Dist. 5.0 and 6.0
Study 50 Genetics of Autism Intermediate Phenotypes Autism Coon, Hepburn R01MH069359 200-201 1711

129 in exome seq dbGap ARRA;

Released in AU Dist. 9.0
Study 56 Clinical and Immunological Investigations of Subtypes of Autism Autism Swedo, Thurm, Amaral Clinical and Immunological Investigations of Subtypes of Autism 163, 208 Released in AU Dist. 14.0
Study 60 A study of Autism Autism Piven 167 275 Released in AU Dist. 14.0
Study 63 Interdisciplinary Studies of Insistence on Sameness in Autism Spectrum Disorders Autism Cook P50HD055751 168 250

438 in exome seq dbGap UIC ACE;

Released in AU Dist. 13.0
Study 64 Center for Genomic and Phenomic Studies in Autism Autism Lajonchere, Amaral, Constantino, Roullet, Malow, Sohl, Manning, Murray 5U24MH081810 202-207, 229 1263

1 in exome seq dbGap ARRA;

Data processing - initial stages; Site 202 Released; Sites 203-207, 229 not released yet
Study 65 Trio Autism Simplex Collection (TASC) Autism Geschwind, Szatmari, Cook, Dawson, Poustka, Gallagher, Cuccaro, Vicente, McMahon, Sutcliffe, Buxbaum, Nurnberger Funded by Autism Speaks 210-221 3374

1012 in exome seq dbGap ARRA; 1815 in dbGaP AGP;

Released in AU Dist. 10.0
Study 69 Biological and Information Processing Mechanisms Underlying Autism Autism Minshew P50HD055748 209 Released in AU Dist. 13.0
Study 79 Genotypic and Phenotypic Factors in Autism Spectrum Disorders Autism Davis, Demmer, Caronna, Kunkel, Walsh, Frazier R01MH085143, R01MH083565 222-227 1048

(lingwei note): 411 in exome seq dbGap ARRA;

29JUL2016(wbh): genomic data at NDAR under collection 2029, not for transfer to NRGR, target sequence data stays at NDAR, exome sequence goes to dbgap, according to David Obenshain of NDAR who cites agreement with Walsh lab; no gwas dataset

https://ndar.nih.gov/edit_collection.html?id=2029

 

NDAR Primary Deposit, study continued; first batch Released in AU Dist. 11.0
Study 86 Autism-Spectrum Disorder Genetics Autism Haines Autism-Spectrum Disorder Genetics 230 1500 Released in AU Dist. 14.0
Study 112 The Genetics of Autism: Epilepsy as a Biomarker Autism Devinsky (724-725), Schultz (740) The Genetics of Autism: Epilepsy as a Biomarker 724-725, 740 1200 Released in AU Dist. 14.0

In Progress*

Study Title Distributions PIs Grants Sites Target Sample Size GWAS Notes Status
Study 41 The Development of the Siblings of Children with Autism: A Longitudinal Study Autism King, Hollander, Sigman, Piven, Volkmar, Tager-Flusberg, Hollander P50HD055784 700-707 438

7 in exome seq dbGap ARRA;

Site 702 still collecting samples, project end date is 31-MAY-2017; Sites 700-705, 707 were released in AU Dist 6.0
Study 64 Center for Genomic and Phenomic Studies in Autism Autism Lajonchere, Amaral, Constantino, Roullet, Malow, Sohl, Manning, Murray 5U24MH081810 202-207, 229 1263

1 in exome seq dbGap ARRA;

Data processing - initial stages; Site 202 Released; Sites 203-207, 229 not released yet
Study 65 Trio Autism Simplex Collection (TASC) Autism Geschwind, Szatmari, Cook, Dawson, Poustka, Gallagher, Cuccaro, Vicente, McMahon, Sutcliffe, Buxbaum, Nurnberger Funded by Autism Speaks 210-221 3374

1012 in exome seq dbGap ARRA; 1815 in dbGaP AGP;

Released in AU Dist. 10.0
Study 79 Genotypic and Phenotypic Factors in Autism Spectrum Disorders Autism Davis, Demmer, Caronna, Kunkel, Walsh, Frazier R01MH085143, R01MH083565 222-227 1048

(lingwei note): 411 in exome seq dbGap ARRA;

29JUL2016(wbh): genomic data at NDAR under collection 2029, not for transfer to NRGR, target sequence data stays at NDAR, exome sequence goes to dbgap, according to David Obenshain of NDAR who cites agreement with Walsh lab; no gwas dataset

https://ndar.nih.gov/edit_collection.html?id=2029

 

NDAR Primary Deposit, study continued; first batch Released in AU Dist. 11.0
Study 89 Identification of Characteristics Associated with Symptom Remission in Autism Autism Black Identification of Characteristics Associated with Symptom Remission in Autism 231 180 5th RFD email sent 11/7/2016; Due 8/1/2013
Study 95 Abnormal Sterols in ASD and NIMH HGI Repository Expansion (4000) Autism Tierney, Porter, Arnold RC2MH090027 232-234 400 7th RFD email sent 2/8/2017; Due 11/30/2013
Study 97 Studies of Autistic Patients: Gene Networks and Clinical Subtypes Autism Rennert, Swedo, Thurm, Raygado Studies of Autistic Patients: Gene Networks and Clinical Subtypes 235 300 7th RFD email sent 2/8/2017; Due 12/31/2013
Study 100 A Longitudinal Imaging Study of Infants at Risk for Autism Autism Piven, Schultz, Botteron, Dagar R01HD055741 236-239 700 NDAR primary deposit; Data will be submitted to NDAR around December 2016
Study 118 Next Generation Gene Discovery in Familial Autism Autism Brkanac R01MH092367 729 60 NDAR primary deposit: requesting access
Study 126 Autism (ACE Network) Autism Constantino, Klin, Molholm R01MH100027 712, 718-720 600 NDAR Primary Deposit; Will be released 6 mos. after last subject's sample has been received by repository
Study 128 A Comprehensive Approach To Identification of Autism Susceptibility Genes Autism Lajonchere, Schultz, Johnson, Reynolds, Butter R01MH081754 713-716 196 NDAR primary deposit: requesting access; Will be released 6 mos. after last subject's sample has been received by repository
Study 135 Multimodal Developmental Neurogenetics of Females with ASD Autism Pelphrey, Nelson, Bookheimer, Webb R01MH100028 470-473 312 Will be released 6 mos. after last subject's sample has been received by repository
Study 146 Induced Neuronal Cells: A Novel Approach to Study Neuropsychiatric Diseases Autism Wernig/S├╝dhof R01MH092931 741 12 6th RFD email sent 2/8/2017; Released no later than 10/31/2015
Study 164 The Autism Biomarkers Consortium for Clinical Trials (ABC-CT) Autism McPartland, Charwarska, Nelson, Dawson, Jeste, Bernier 1U19MH108206-01 474-478 200 Will be released 3 mos. after the end of the project period, 9/30/2019
Study 172 A Clinical Study to Establish a Metabolic Biomarker-Based Test to Diagnose Autism Spectrum Disorder in Early Childhood Autism Robert Burrier (PI), David Amaral, Daniel Coury, Melmed Raun, Kevin Sanders, Richard Frye, Logan Wink, Ann Neumeyer 1R44MH107124-01 772-777, 784, 786 1500 Will be released to the public no later than 1/31/2019
Study 175 Neurobiology of Autism with Macrocephaly Autism Flora Vaccarino R01MH109648 780 120 Will be released to the public no later than 10/30/2021

*Studies in progress includes those available for download for which some future action is required

Rutgers University Rutgers University USC Information Sciences Institute Washington University in St.Louis National Institute of Mental Health