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Autism Genome 10k
For years, researchers have been working to discover and explore the genes associated with the development of autism spectrum disorder. The hope is that the discovery of the susceptibility genes involved with autism will lead to earlier detection and better treatments for individuals affected by the disorder. Similar to the Autism Genome Project, the Autism Genome 10k research initiative is designed to explore the connections between genetics and autism spectrum disorder. Building on the work of the Autism Genetic Resource Exchange (AGRE), the goal of the Autism Genome 10k is “to better understand the genetic cause of autism and accelerate the discovery and development of effective new therapies….[and to] create and analyze the world’s largest library of sequenced genomes of individuals with Autism Spectrum Disorder (ASD).”1 The international research initiative is a partnership between the advocacy organization Autism Speaks and Beijing Genomics Institute, the world’s largest genomic organization and a lead in whole genome sequencing.2 Andy Shih, PhD, senior vice president of scientific affairs at Autism Speaks, says that Autism Speaks selected BGI “to lead the autism genome project because its sequencing speed and capacity for crunching billions of bits of data is unmatched.”3 This article will discuss the details of the research initiative and what the project aims to accomplish upon completion.
What is the Autism Genome 10k?
The Autism Genome 10k was launched October 13, 2011 with the goal to fully sequence 10,000 genomes drawn mainly from families with two or more children with an autism spectrum disorder within the next two years.4 Many of the genes being sequenced during this process have been collected by the Autism Genetic Resource Exchange which gathers DNA and medical information from families across the United States.2,5 Another 1,000 new samples from Chinese individuals will be collected and sequenced by the time the project is complete.4 Autism Speaks contributed $200,000 initially to the sample collection effort in China and $250,000 for initial sequencing, which will cover the sequencing cost for about 100 people.4,6 These amounts only cover a fraction of the $30 million partnership, but Autism Speaks and BGI have pledged that they will work together to raise the remaining funds for the project.3-4 The results of phase 1 of the project, which collected complete genomic sequencing of 200 individuals from AGRE and Chinese families, are soon to be published in scientific journals.7 According to Geraldine Dawson, former chief science officer at Autism Speaks, the hope is that the information gained from “whole genome sequencing will contribute to the development of effective treatments to improve the lives of individuals affected by autism.”2
The Early Findings and Future of Autism Genome 10k
While the scientific community awaits the publication of the Phase 1 results from the Autism Genome 10k project, Dr. Shih has stated that the “preliminary analysis is providing information with clear usefulness in the diagnosis and clinical care of autism.”8 Wang Mingbang, the director the project at BGI has revealed the initial analysis of the genomes indicates that “there may be anywhere from 100 to 300 genes that interact to trigger autism…even more interesting, quite a few of those genes seem to have spontaneously occurred, meaning they were not inherited from parental lineage.”9 In July 2013, the first preliminary findings from the 10k Autism Genome Project from a pilot study titled “Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing.” The study utilized the whole genome sequencing technique to scan 100% of the DNA of 32 Canadian families participating in AGRE. In all, the study identified four newly recognized genes, eight candidate autism risk genes, and nine genes previously linked to autism.10-11 Additionally, the findings allowed for the participating families to be notified of the potential autism at-risk genes present in their DNA.11 In all, the researches detected harmful de novo mutations in 15 of the children with autism.12 Using this data, the researchers “determined that these mutations may contribute to autism symptoms in six of the children, or 19 percent, which is twice the proportion that other methods have turned up.”12 For more information on how this portion of 10K Autism Genome Project has helped the families of those who participated visit here.
Phase 2 of the project hopes to build on the sequencing of the 200 individuals by sequencing an additional 2,800 samples from AGRE and China.10 The third and final phase of the project will expand the amount of sequenced genomes greatly as the project aims to gather 7,000 additional samples from around the world, which would bring the grand total to 10,000 sequenced genomes.10 The Autism Genome 10k project aims to establish a genetic basis for autism with the hopes that “diagnosing the disorder will become more routine and the potential for targeted medicine and treatments will increase.”3