NEW AUTISM GENES DISCOVERED

NEW AUTISM GENES DISCOVERED:

AUTISM SPEAKS AND THE WORLD’S LEADING AUTISM EXPERTS ANNOUNCE PHASE 2 RESULTS OF THE

AUTISM GENOME PROJECT

PRESS RELEASE

Phase 2 Results of the Autism Genome Project

Published in Nature



NEW YORK, N.Y. (June 9, 2010) – Autism Speaks, the world’s largest autism science and advocacy organization, and an international consortium of researchers, along with participating families, joined together to announce new autism 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) 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, the Hilibrand Foundation and Autistica. 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 only account for 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 AGP consists of 120 scientists from more than 60 institutions representing 11 countries who formed a first-of-its-kind autism genetics consortium. The AGP began in 2002 when researchers from around the world decided to come together and share their samples, data, and expertise to facilitate the identification of autism susceptibility genes. This continuing collaboration and its unique scientific assets (e.g., large sample set and multidisciplinary expertise) created scientific opportunities that otherwise would not exist. The AGP is well positioned to build on these extraordinary assets as the field of autism genetics further investigates rare variants, requiring larger sample sets to identify more CNV. Additional support for Phase 2 of the AGP was provided by the National Institutes of Health. The first phase of the AGP, the assembly of the largest-ever autism DNA collection and whole genome linkage scan, was funded by Autism Speaks and the National Institutes of Health and completed in 2007. For more information about the AGP please visit http://www.autismgenome.org/



About Autism

Autism is a complex neurobiological disorder that inhibits a person's ability to communicate and develop social relationships, and is often accompanied by behavioral challenges. Autism spectrum disorders are diagnosed in one in 110 children in the United States, affecting four times as many boys as girls. The prevalence of autism increased 57 percent from 2002 to 2006. The Centers for Disease Control and Prevention have called autism a national public health crisis whose cause and cure remain unknown.



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.



About the Co-Founders

Autism Speaks was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob Wright is Senior Advisor at Lee Equity Partners, Chairman and CEO of the Palm Beach Civic Association and served as vice chairman, General Electric, and chief executive officer of NBC and NBC Universal for more than twenty years. He also serves on the boards of the Polo Ralph Lauren Corporation, RAND Corporation and the New York Presbyterian Hospital. Suzanne Wright has an extensive history of active involvement in community and philanthropic endeavors, mostly directed toward helping children. She serves on the boards of several non-profit organizations and is also Trustee Emeritus of Sarah Lawrence College, her alma mater. Suzanne has received numerous awards such as the CHILD Magazine Children’s Champions Award, Luella Bennack Volunteer Award, Spirit of Achievement award by the Albert Einstein College of Medicine's National Women’s Division and the Weizmann Institute of Science. In 2008, the Wrights were named to the Time 100 list of the most influential people in the world for their commitment to global autism advocacy.

CDC Reports 1 in 110 Children Diagnosed With Autism

Press Release - Autism Speaks



As CDC Issues New Autism Prevalence Report, Autism Speaks Asks, "What Will It Take?" for Government to Meet the Challenge of this National Health Crisis
Leading Autism Advocacy Organization Calls for Dramatic Increase in Federal Funding for Research and Services


NEW YORK, N.Y. (December 18, 2009) – In the wake of today's new report from the U.S. Centers for Disease Control (CDC) stating that autism now affects 1 in every 110 American children, Autism Speaks, the nation's largest autism science and advocacy organization, called on the federal government to immediately step up its efforts – and dramatically increase funding – to address the growing national autism public health crisis.

“Now that the government has confirmed that one percent of American children have autism, the question becomes what it will take to get our elected leaders to wake up and take on this crisis in an appropriate way,” said Bob Wright, co-founder of Autism Speaks. “Must we wait until every member of Congress has a child or grandchild with autism, or until every household is impacted by this devastating disorder? With nearly 750,000 children on the autism spectrum, we need meaningful action now that acknowledges the scope of this problem and allocates the resources necessary to take the fight against autism to a new level. We cannot expect the millions of people impacted by this crisis to wait another 20 years for answers.”

The CDC report, published in this week's Morbidity and Mortality Weekly Report (MMWR), states that 1% or 1 in every 110 children has been diagnosed with autism, including 1 in 70 boys. This represents a staggering 57 percent increase from 2002 to 2006, and a 600 percent increase in just the past 20 years. Other significant findings include that a broader definition of ASDs does not account for the increase, and while improved and earlier diagnosis accounts for some of the increase, it does not fully account for the increase. Thus, a true increase in the risk for ASD cannot be ruled out. Even though parents typically express concerns about their child's developmental progress before age three, the average age of diagnoses is not until 53 months, although diagnoses are occurring earlier than found in the 2002 study. The report uses the same methodology that produced the CDC's 2007 prevalence findings of 1 in 150 children with autism.

“This study provides strong evidence that the prevalence of autism spectrum disorder is, in fact, dramatically increasing,” said Geraldine Dawson, Ph.D., Autism Speaks chief science officer, who noted that recent research indicates that a significant amount of the increase in autism prevalence cannot be explained by better, broader or earlier diagnosis. “It is imperative that the federal government, primarily through the National Institutes of Health and CDC, quickly and significantly increase funding for autism research. We have learned a lot about autism during the past five years. However, most of the critical questions about the factors that cause the many manifestations of autism – and how we can better treat this disorder – remain unanswered.”

“The CDC numbers validate what we already know: We have a major public health emergency on our hands that is taking an enormous toll on millions of families across the country,” said Autism Speaks President Mark Roithmayr. “These families want answers that can only come through further research. They also desperately want access to services that are, at this point, grossly inadequate to meet the current and growing needs of people with autism. That must change quickly, before our society becomes overwhelmed by the demand for these services in the coming years and decades.”

According to a 2007 Harvard School of Public Health study, it costs approximately $35 billion each year to care for people with autism – a number that has clearly increased over the past 2 years with the rising prevalence among the youngest people with ASD and a growing demand for housing, work skills and opportunities, healthcare, and other services that simply do not exist for adults with ASD. In FY 2008, total federal spending on autism research was just $177 million, expected to increase to $282 million in FY 2009 – only because of a one-time infusion of $89 million in stimulus spending.

“During his campaign, President Obama committed to $1 billion of annual federal spending on autism by 2012. In October, he identified autism as one of his administration's top three public health priorities. This new prevalence data must compel Congress to take action to fulfill the President's promise in the upcoming FY 2011 budget process,” said Wright. “It is also vital that any healthcare reform legislation sent by Congress to the President must include – as both the current House and Senate versions do – an end to insurance marketplace discrimination against people with autism by requiring insurers to deliver coverage for behavioral health treatments.”

“There are too many children with autism who are being diagnosed at six, seven or even eight years of age, which is far too late for them to experience the maximum benefits of early intervention services,” said Dawson. “Clearly, we need to do a better job of diagnosing children as early as possible – ideally by age two. We know that early intervention can make a critical difference in a child's outcome.”