New Autism Genes Discovered

Packard and Stanford Researchers Join Leading Experts to Announce Results of
Autism Genome Project; Findings Published in Nature

PALO ALTO, Calif.--(Business Wire)--
An international consortium of researchers working under the auspices of Autism
Speaks, the world`s largest autism science and advocacy organization, has
announced new genetic discoveries from the second phase of its collaborative
study: the Autism Genome Project. The results were published today in the
journal Nature, one of the world`s most respected peer-reviewed scientific
publications.

The Autism Genome Project (AGP) (www.autismgenome.org) consists of 120
scientists from more than 60 institutions representing 11 countries. Included in
the consortium were scientists from Lucile Packard Children`s Hospital and
Stanford University. Joachim Hallmayer, M.D., associate professor of Psychiatry,
and a member of the Stanford Autism Center at Packard Children`s Hospital, noted
the importance of the findings.

"In essence, we have identified specific genes that give rise to autism,"
Hallmayer said. "Recognizing the genetic factors that cause this complex
disorder is a critical first step to better understanding and treating its
different manifestations."

Based on analysis of high-density genotyping data collected from 1,000
individuals with autism spectrum disorder (ASD) and 1,300 without ASD, the AGP
reported that individuals with autism tend to carry more submicroscopic
insertions and deletions called copy number variants (CNV) in their genome than
controls. Some of these CNV appeared to be inherited, while others are
considered de novo, or new, because they are found only in affected offspring
and not in the parents. Taken together, more of the CNVs disrupt genes,
previously reported to be implicated in intellectual disability without autism
or in autism, than expected by chance.

The new AGP study also identified new autism susceptibility genes including
SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. Some of these genes
belong to synapse-related pathways, while others are involved in cellular
proliferation, projection and motility, and intracellular signaling, functional
targets that may lead to the development of new treatment approaches.

These findings further support an emerging consensus within the scientific
community that autism is caused in part by many "rare variants" or genetic
changes found in less than one percent of the population. While each of these
variants may account for only a small fraction of the cases, collectively they
are starting to account for a greater percentage of individuals in the autism
community, as well as providing insights into possible common pathogenic
mechanisms. The overlap between autism susceptibility genes and genes previously
implicated in intellectual disabilities further supports the hypothesis that at
least some genetic risk factors are shared by different psychiatric
developmental disabilities. Finally, identification of these biological pathways
points to new avenues of scientific investigation, as well as potential targets
for the development of novel treatments.

"Piece by piece, we are discovering genetic mutations that can cause autism.
These findings will provide answers for families about what contributed to their
autism," said Andy Shih, Ph.D., Autism Speaks vice president for scientific
affairs. "Furthermore, as we have learned from examples involving other genetic
risk factors of autism (e.g., Fragile X, Rett, TSC), these genetic findings help
us understand the underlying biology of autism, which can lead to the
development of novel treatments."

The Autism Genome Project (AGP) is an international autism genetics research
consortium co-funded by Autism Speaks, the Medical Research Council, Canadian
Institutes of Health Research, Health Research Board (Ireland), Genome Canada,
and the Hilibrand Foundation. Additional support for Phase 2 of the AGP was
provided by the National Institutes of Health.

About Lucile Packard Children`s Hospital

Ranked as one of the best pediatric hospitals in the nation by U.S.News & World
Report, Lucile Packard Children`s Hospital at Stanford is a 312-bed hospital
devoted to the care of children and expectant mothers. Providing pediatric and
obstetric medical and surgical services and associated with the Stanford
University School of Medicine, Packard Children`s offers patients locally,
regionally and nationally the full range of health-care programs and services -
from preventive and routine care to the diagnosis and treatment of serious
illness and injury. For more information, visit www.lpch.org.

About Autism Speaks

Autism Speaks is North America`s largest autism science and advocacy
organization. Since its inception in 2005, Autism Speaks has made enormous
strides, committing over $142.5 million to research through 2014 and developing
innovative new resources for families. The organization is dedicated to funding
research into the causes, prevention, treatments and a cure for autism;
increasing awareness of autism spectrum disorders; and advocating for the needs
of individuals with autism and their families. In addition to funding research,
Autism Speaks also supports the Autism Treatment Network, Autism Genetic
Resource Exchange and several other scientific and clinical programs. Notable
awareness initiatives include the establishment of the annual United
Nations-sanctioned World Autism Awareness Day on April 2 and an award-winning
"Learn the Signs" campaign with the Ad Council which has received over $210
million in donated media. Autism Speaks` family resources include the Autism
Video Glossary, a 100 Day Kit for newly diagnosed families, a School Community
Tool Kit and a community grant program. Autism Speaks has played a critical role
in securing federal legislation to advance the government`s response to autism,
and has successfully advocated for insurance reform to cover behavioral
treatments. Each year Walk Now for Autism Speaks events are held in more than 80
cities across North America. To learn more about Autism Speaks, please visit
www.autismspeaks.org.

Autism Speaks
Dana Marnane, 646-408-5749 (Media)
dmarnane@autismspeaks.org
or
Lucile Packard Children`s Hospital
Robert Dicks, 650-497-8364 (Media)
rdicks@lpch.org
Jose Gordon, 650-497-8489 (Media)
jose.gordon@lpfch.org

Copyright Business Wire 2010