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Genetics and Genomics

Autism Speaks funds genetic and genomic research that can lead to improved diagnosis and treatment of autism spectrum disorder


In recent years, research has greatly advanced our understanding of the genetics and genomics of brain development and function.

The term genetics describes the study of individual genes. Made of DNA, genes “code,” or provide instructions, for building the proteins that make up our body and direct its growth and function.

The related term genomics refers to an individual’s entire set of genes together with the factors that coordinate gene activity at different times and places during development and life. Generally speaking, genomic research relies on powerful new technologies.

Why Autism Speaks Funds Genetics and Genomics
Autism Speaks funds genetic and genomic research to advance understanding of autism in ways that can lead to improved diagnosis and treatment. Genetic research has also transformed our understanding what causes or contributes to the development of autism spectrum disorder (ASD).

Already, genetic testing has become an important part of autism diagnosis and care. Often, it can guide treatment of autism and associated medical conditions such as epilepsy. Genetic testing is particularly important for detecting a number of syndromes associated with autism. These include fragile X syndrome, Angelman syndrome, tuberous sclerosis complex, chromosome 15q duplication syndrome, Pheland-McDermid syndrome and DiGeorge syndrome.

Clinicians can now identify the genetic basis of ASD in 10 to 20 percent of cases. We expect these figures to grow dramatically in the coming years as genetic discoveries continue to accelerate.

10K Genome Project
In 2011, Autism Speaks launched a historic collaboration with the world’s largest genome sequencing institution, BGI (formerly Beijing Genomics Institute). BGI has more than a hundred of the world’s most advanced DNA-sequencing machines.

The Autism Speaks-BGI “10K Genome Project” builds on the work of Autism Speaks Autism Genetic Resource Exchange (AGRE). AGRE is a high-quality collection of more than 12,000 anonymous DNA samples from families affected with autism. This collection has already enabled many important scientific discoveries in the field of autism.

Phase 1 of the “10K Project” is now completed, with the complete genomic sequencing of 200 individuals from AGRE and Chinese families. Each of the Phase 1 families is a trio, comprised of an affected child and both parents. Preliminary analysis of the results is already providing information with clear usefulness in guiding diagnosis and treatment. These findings are now being prepared for publication in scientific journals.

Phase 2 of the project will involve the sequencing of an additional 2,800 genomes from AGRE and Chinese families. Phase 3 will complete this historic collaboration by bringing the total number of genome sequenced to 10,000.

The Autism Genome Project (AGP)
Launched in 2004, the Autism Genome Project (AGP) is the world's largest research project on identifying genes associated with risk for autism. 

Many of the world's leading genetic researchers pooled their resources and used a promising new technology, the DNA microarray, to scan the human genome in the search of autism’s genetic causes and risk factors.

The project is a public/private research partnership involving approximately 50 academic and research institutions that have pooled their DNA samples in a collaborative effort. It is designed to enable doctors to better diagnose autism subtypes and enable researchers to develop tailored medical treatments.

The first phase of the project involved a research partnership with the National Institutes of Health (NIH). Researchers scanned the human genome searching for genes that increased or decreased susceptibility to developing autism. This included analysis of DNA samples from nearly 1, 200 families.

The second phase expanded on results with more families and allowed researchers to confirm or rule out the role of genes previously identified as possibly contributing to autism susceptibility.

The consortium is currently preparing for Phase 3, where deeper genetic and genomic sequencing will deepen understanding of the genetic changes and related factors that influence autism risk. The goal is to use this transformative amount of information to develop tools that can help assess a child's risk and enable earlier diagnosis and intervention to improve outcomes.

Already, AGP’s clinical samples and information have played a significant role in the research findings of the Autism Sequencing Consortium. Supported by the National Institutes of Health, the consortium is applying the powerful technology of large-scale, high-throughput exome sequencing to advance understanding of autism. Read more about the consortium’s research here.

Click here to learn about results from the first phase of the Autism Genome Project. Click here for a guide to understanding the project’s initial findings. Click here to find out about phase two of the project. Click here to request more information.

For more information and perspective, please see these related news stories and blogs by Autism Speaks science staff and affiliated researchers:

New Guidelines for Genetic Testing in Children

Finding Information on Autism-Related Genes

Autism Speaks Funds Creation of World’s Largest Autism Genome Library

Base Pairs to Bedside: A Visit to Beijing Genomics Institute

Autism Shares Risk Genes with Major Psychiatric Disorders

Exploring Autism’s Genetic ‘Dark Matter’

From Genetic Discoveries to Improved Diagnosis & Treatment

* Common Gene Variations Add Up to Increase Autism Risk

Researchers Link New Autism Gene to Serotonin Production

Researchers Identify 24 More “High Impact” Autism Gene Changes


Follow these links to explore Autism Speaks funded research on genetics and genomics.