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Center for Genomic and Phenomic Studies in Autism

NAMHC Concept Clearance


Thomas Lehner, Ph.D., M.P.H.
Acting Director, Office of Human Genetics & Genomic Resources
Chief, Genetic Basis of Mental Disorders Program Division of Neuroscience and Basic Behavioral Science


This initiative will comprehensively characterize a large sample of autistic children and their relatives, both cytogenetically and phenotypically, including potential biomarkers and other endophenotypes, with the goal of capturing the autism phenome.

Autism is one of the most heritable complex genetic disorders, estimated to affect over 1.5 million Americans.1 Despite this high heritability, autism has a heterogeneous etiology, with multiple genes and chromosomal regions likely to be involved. Variable expressions of symptoms and overly broad diagnostic criteria have made it difficult to identify individual susceptibility loci. Over the last five years, researchers have identified several promising candidate genes that influence specific cellular processes potentially related to the neuropathology of Autism Spectrum Disorders (ASD). The translation of these findings into clinical treatments requires access to large clinical populations and an in depth understanding of the clinical phenotypes and sub-phenotypes.

The initiative will have four components: (a) Subdivision of the autism phenotype into more homogenous subtypes better suited for genetic analyses; (b) Broadening the scope of phenotypic data to include cranial abnormalities, neurobehavioral characteristics, communication skills, oral-motor functioning, and cognitive/neuropsychological functioning; (c) Development and application of new genetic methods that combine the assessment of chromosomal abnormalities with novel biochemical methods with the potential to identify disease-causing chromosomal breakpoints; (d) Inclusion of Tuberous Sclerosis, Fragile X, and Rett's, Angelman's, and Joubert's diseases to investigate the potential overlap of autism with disorders of less complexity and known genetic susceptibility. All biomaterials and phenomic data will become part of the NIMH Genetic Repository.

1 Moldin, SO, Rubinstein, JLR (Eds.). Understanding autism: from basic neuroscience to treatment. Boca Raton, FL: CRC Press, 2006.

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