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 Target Sample Size Status
Study 4 Collaborative Linkage Study of Autism 665 Released
Study 10 Collaborative Linkage Study in Autism 4 Released
Study 14 Molecular Genetics of Infantile Autism 563 Released
Study 21 AGRE; A Genomewide Search for Autism Susceptibility Loci 3908 Released in AU Dist. 7.0
Study 30 A study of Autism 50 Released in AU Dist. 5.0
Study 31 A study of Autism 79 Released in AU Dist. 5.0
Study 32 A study of Autism 483 Released in AU Dist. 5.0
Study 33 Longitudinal Study of Language and Theory of Mind in Autism 210 Released in AU Dist. 5.0
Study 34 Neurobiology and Genetics of Autism 214 Released in AU Dist. 5.0
Study 35 Molecular and Genetic Epidemiology of Autism 1220 Released in AU Dist. 8.0
Study 36 A study of Autism 310 Released in AU Dist. 5.0
Study 37 RUPP-PI 133 Released in AU Dist. 5.0
Study 39 A study of Autism Released in AU Dist. 13.0
Study 41 The Development of the Siblings of Children with Autism: A Longitudinal Study 438 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 Released in AU Dist. 12.0
Study 46 DM-STAT (data coordinating site for Studies 30, 31, 33, 34 & 41) Released in AU Dist. 5.0 and 6.0
Study 50 Genetics of Autism Intermediate Phenotypes 1711 Released in AU Dist. 9.0
Study 63 Interdisciplinary Studies of Insistence on Sameness in Autism Spectrum Disorders 250 Released in AU Dist. 13.0
Study 64 Center for Genomic and Phenomic Studies in Autism 1263 Data processing - initial stages; Site 202 Released; Sites 203-207, 229 not released yet
Study 65 Trio Autism Simplex Collection (TASC) 3374 Released in AU Dist. 10.0
Study 69 Biological and Information Processing Mechanisms Underlying Autism Released in AU Dist. 13.0
Study 79 Genotypic and Phenotypic Factors in Autism Spectrum Disorders 1048 Released in AU Dist. 11.0

In Progress*

Study Title Target Sample Size Status
Study 41 The Development of the Siblings of Children with Autism: A Longitudinal Study 438 Site 702 still collecting samples, project end date is 31-MAY-2017; Sites 700-705, 707 were released in AU Dist 6.0
Study 56 Clinical and Immunological Investigations of Subtypes of Autism Data processing - final stages
Study 60 A study of Autism 275 Data processing - final stages
Study 64 Center for Genomic and Phenomic Studies in Autism 1263 Data processing - initial stages; Site 202 Released; Sites 203-207, 229 not released yet
Study 86 Autism-Spectrum Disorder Genetics 1500 Data processing - initial stages
Study 89 Identification of Characteristics Associated with Symptom Remission in Autism 180 Waiting for data
Study 95 Abnormal Sterols in ASD and NIMH HGI Repository Expansion (4000) 400 Waiting for data
Study 97 Studies of Autistic Patients: Gene Networks and Clinical Subtypes 300 Waiting for data
Study 100 A Longitudinal Imaging Study of Infants at Risk for Autism 700 Will be released 6 mos. after last subject's sample has been received by repository or by 7/1/2014
Study 112 The Genetics of Autism: Epilepsy as a Biomarker 1200 Waiting for data
Study 118 Next Generation Gene Discovery in Familial Autism 60 NDAR primary deposit: requesting access
Study 126 Autism (ACE Network) 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 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 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 12 No later than 10/31/2015
Study 164 The Autism Biomarkers Consortium for Clinical Trials (ABC-CT) 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 1500 Will be released to the public no later than 1/31/2019

*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