Genetic Analysis of Individuals With Autism Finds Gene Deletions

[Schafer Autism Report]

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RESEARCH Genetic Analysis of Individuals With Autism Finds Gene Deletions Deletions may be linked to miswiring of brain neurons        eurekalert.org       Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder. That means those individuals -- seven percent of the study group -- had one copy of one or more genes when they should have had two.       The scientists further report, in the American Journal of Human Genetics, that their analysis suggests the deletions may result in the miswiring and altered activity of brain neurons.       "This is the first finding that small deletions impacting one or two genes appear to be common in autism, and that these deletions contribute to risk of development of the disorder," says the study's lead investigator, Joseph D. Buxbaum, PhD, Professor of Psychiatry, Genetics and Genomic Sciences and Neuroscience at the Icahn School of Medicine at Mount Sinai.       "This conclusion needs to be expanded in other independent samples of ASD so that we can truly understand how the risk manifests," he says.       That process is now ongoing, Dr. Buxbaum adds. The Autism Sequencing Consortium, a group of over 25 institutions, was awarded a $7 million grant from the National Institutes of Health to continue analyzing the genomes of thousands of ASD individuals at Mount Sinai. First look for missing genes in autistic population       Autism, which affects about one percent of the population, is a developmental disorder thought to   For rest of today's SAR click here: www.sarnet.org/frm/forsar.htm   Today's SAR newslist is human compiled and provided through the support of paid subscriptions.                    - THANK YOU - $35 for 1 year - or free! www.sarnet.org

In This Issue: • • • • • • • • • • • • RESEARCH Genetic Analysis of Individuals With Autism Finds Gene Deletions Researchers Ferret Out Function of 'Autism Gene' No Link Between Autism and Celiac Disease Recurrence of Autism Spectrum Disorders in Full- and Half-Siblings and Trends Over Time: A Population-Based Cohort Study TREATMENT Surgical Procedure Helps Reduce Autism-Related Screaming That Herbal Supplement May Not Be What You Think It Is, Scientists Find Australia Mum Flies To Beijing For Unproven Stem Cell Treatment For Autistic Daughter RESOURCES How QR Codes Help Autistic Children A Good Read: Wise Words And Good Stories On Autism PEOPLE Family Holding Vigil For Missing Autistic Queens Son Daryl Hannah Opens Up About Living with 'Autism' COMMENTARY Debate Continues: Is Autism Really Growing?   'Schafer Autism Report' Now an App on iPhone, iPad and Droid!     DO SOMETHING • ABOUT AUTISM NOW . . . Read, then Forward the Schafer Autism Report. $35 for 1 year - or free! www.sarnet.org Hundreds of Local Autism Events Web / Everywhere Alabama Alaska Arizona Arkansas California Colorado Connecticut Delaware District of Columbia Florida Georgia Hawaii Idaho Web / Everywhere Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Maryland Massachusetts Michigan Minnesota Mississippi Missouri Web / Everywhere Montana Nebraska Nevada New Hampshire New Jersey New Mexico New York North Carolina North Dakota Ohio Oklahoma Oregon Pennsylvania Web / Everywhere Rhode Island South Carolina South Dakota Tennessee Texas Utah Vermont Virginia Washington West Virginia Wisconsin Wyoming Web / Everywhere Now's the perfect time to order your free Puzzle Piece kits and launch an autism awareness campaign in your community. When we raise the funding necessary, ARI will see that important research is done, including the large-scale, independent study of vaccinated vs. unvaccinated children Click here. SAR Back Issues The Autism Community Supports the Schafer Autism Report . . . Read, then Forward the Schafer Autism Report. $35 for 1 year - or free! www.sarnet.org Biomedical Treatments for Autism Spectrum Disorders Scientific References and Abstracts www.autismbiomed.com

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