| NIH Joined by Advocacy Groups to Fund Research on Autism
Five institutes at the National Institutes of Health (NIH) and three private
autism organizations have formed a consortium to pursue their common goal of
understanding a devastating disorder. This public-private partnership has funded
five grants representing three projects to identify genes that may contribute
to the development of autism and Autism Spectrum Disorders. The National Institute
of Mental Health will administer the $10.8 million awards over the next five
The participating NIH institutes are The National Institute of Child Health
and Human Development (NICHD), The National Institute on Deafness and Other Communication
Disorders (NIDCD), The National Institute of Environmental Health Sciences (NIEHS),
The National Institute of Mental Health (NIMH), and The National Institute of
Neurological Disorders and Stroke (NINDS). The voluntary organizations contributing
funds are Cure Autism Now (CAN), National Alliance for Autism Research (NAAR),
and the Southwest Autism Research & Resource Center (SARRC).
Autism is a neurodevelopmental disorder that causes severe and pervasive impairment
in thinking, feeling, language, and the ability to relate to others. In an average
year, one to six new cases of autism arise per 1,000 children. Experts believe
that as high as 90 percent of the variance in the disorder is due to hereditary
factors, and research suggests a strong interaction between environmental factors
and multiple unknown genes. As researchers gain a better understanding of the
genes responsible for autism, they may be better able to distinguish between
the different variants of the disorder and to develop targeted therapies and
interventions to treat them.
“This initiative seeks to expand our knowledge of the genetic factors involved
in this disorder that affects so many families, said NIMH Director Thomas R.
Insel, M.D. “New technologies in gene research can allow scientists to better
understand the role genes play in the development of autism, and eventually lead
to better treatments.”
Five grants have been awarded to three teams of investigators:
- A three-site collaborative project, involving Rutgers University, the University
of Medicine and Dentistry of New Jersey, the Robert Wood Johnson Medical School,
and University of Iowa, for a project entitled “Identification and Functional
Assessment of Autism Susceptibility Genes” with investigators Linda Brzustowicz,
M.D., James Millonig, Ph.D., and Veronica Vieland, Ph.D., respectively.
- Cold Spring Harbor Laboratory for a project entitled, “Determining the Genetic
Basis of Autism by High-Resolution Analysis of Copy Number,” directed by Jonathan
- Emory University, for a project entitled, “Identifying Autism Susceptibility
Genes by High-Throughput Chip Resequencing,” directed by Michael Zwick, Ph.D.
The three-site collaborative project uses novel statistical methods, fine mapping
of candidate regions across the genome, and animal models in the search for autism
Cold Spring Harbor Laboratory’s proposal also is highly innovative, capitalizing
on the recent discovery of the existence and extent of the high variability of
the human genome. Dr. Sebat will examine gene sequence data in order to identify
genes and other genomic elements that have either been deleted (micro deletions)
or repeated (some many times over). These extensive gene alterations may contribute
to the range of Autism Spectrum Disorders.
The Emory project seeks to explore forms of familial inheritance through the
X chromosome — because more males than females are diagnosed with autism. Zwick
will use a highly innovative technology with great promise for DNA sequencing.
It is hoped that this study might lead to insights into autism and a related
disorder, Fragile X syndrome.
These new initiatives complement a large autism genetics project funded by NIMH
earlier this year and awarded to Johns Hopkins University for research led by
Aravinda Chakravarti, Ph.D. This effort employs state-of-the-art gene chips to
study variation across the genome in children with autism. This study has already
yielded interesting results that point to candidate genomic regions on chromosomes
7, 10, and 19. These signals will provide important clues to the three new genetics
projects funded by the consortium.*
These studies would not be possible without the support of the NIMH Human Genetics
Initiative** and its large data and sample repository which is available to investigators
who study the genetics of autism. It is the largest such facility for mental
disorders in the world and collects data and blood samples, makes cell lines,
stores DNA and clinical data for autism and other mental disorders.
For more information on Autism Spectrum Disorders, visit http://www.nimh.nih.gov/healthinformation/autismmenu.cfm.
*For information about similar projects in genetic research
on autism, visit http://www.nimh.nih.gov/press/autismgenetics.cfm.
**For more information about the NIMH Human Genetics Initiative,
NIMH is one of the 27 components that make up NIH, the Federal Government’s
primary agency for biomedical and behavioral research. NIH is part of the Department
of Health and Human Services.
The National Institutes of Health (NIH) — The Nation's Medical Research
Agency — includes 27 Institutes and Centers and is a component of
the U. S. Department of Health and Human Services. It is the primary Federal
agency for conducting and supporting basic, clinical, and translational medical
research, and it investigates the causes, treatments, and cures for both common
and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.