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November 18, 2015

Illumina, iHART Launch Genomic Database for Autism

  • Illumina said today it is partnering with the Hartwell Autism Research and Technology Initiative (iHART) to establish a genomic database for autism spectrum disorder (ASD). The effort is part of iHART’s mission to establish the largest shared, open-access repository of bioinformatic data on autism.

    In addition to providing insights into ASD, the collaboration aims to develop a user-friendly interface that will be accessible to researchers as well as individuals outside the research community, including families participating in the study.

    iHART will place 5,000 genomes of individuals with autism and their families from the National Institute of Mental Health (NIMH) genetics repository in the Illumina BaseSpace genomics analysis cloud computing platform, which directly integrates with the sequencing giant’s MiSeq and HiSeq instruments. “This collaboration further showcases that BaseSpace makes it easy for customers to study large sample cohorts,” Ilya Chorny, BaseSpace Market Manager at Illumina, said in a statement.

    BaseSpace, which is built on Amazon Web Services (AWS), will be used as a cloud-based data analysis and management platform for the initiative. Researchers will be able to access BaseSpace to quickly analyze the data and determine the genomic variation across all the samples, according to Illumina.

    The initiative will also draw on big data analytic capabilities such as AWS’s Amazon RedShift, a petabyte-scale data warehouse designed to enable simple and cost-effective analysis of genomic data across large populations. “We’re excited to see Illumina, and investigators at Stanford, UCLA, and the New York Genome Center leveraging the AWS cloud to help uncover new treatments and underlying causes of autism,” stated Matt Wood, general manager of product strategy at AWS.

    iHART is funded by a $9 million grant from the Hartwell Foundation. Another iHART collaborator is the Simons Foundation, which is also funding the initiative.

    The collaboration will be led by principal investigator Dennis Wall, Ph.D., an autism researcher at Stanford University School of Medicine, and Dan Geschwind, M.D., Ph.D., distinguished professor of neurology psychiatry and human genetics at UCLA, as well as director of the UCLA Center for Autism Research and Treatment, whose lab is co-leading the analysis of the genetic data.

    Drs. Wall and Geschwind will direct the analysis of the data, while Dr. Wall will lead the integration of the data and development of the cloud-based computing and communications technology platform.

    “We believe that this landmark collaboration and open initiative will set the stage for major, clinically useful discoveries in the near future,” Dr. Wall stated. “The complexity of autism requires big data scientific initiatives like this that are openly accessible and act as a sandbox in which all qualified researchers can play.

    “Ultimately we hope our effort will help define the forms of autism and bring sufficient clarity for marker development and much more,” Dr. Wall added.

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