Hilibrand Foundation Partners with the Autism Science Foundation In Support of the Autism Sisters Project

February 2, 2016

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ASF Sisters Project from Autism Science Foundation on Vimeo.

New Research Initiative Seeking the Involvement of Unaffected Sisters of Individuals with Autism in the Search for Autism’s “Female Protective Effect”

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NEW YORK, NY (February 2, 2016) – The Autism Science Foundation (ASF), a not-for-profit organization dedicated to supporting and funding autism research, today announced that the Hilibrand Foundation will be partnering with the organization in support of the Autism Sisters Project, a new research initiative that will give unaffected sisters of individuals with autism the opportunity to take an active role in accelerating research into the “Female Protective Effect.” The Hilibrand Foundation will provide major financial support for this project which has a goal of building a large genetic database that researchers can use to explore this phenomenon and discover how the protective factor can be harnessed to help people with autism of both sexes.

“The Hilibrand Foundation is proud to be a collaborative partner of the Autism Science Foundation,” said Debbie Hilibrand, Co-Founder of the Hilibrand Foundation. “The Autism Sisters Project is a very promising research initiative that should provide significant insight into the causes and potential treatments for autism by conducting a thorough investigation into the reasons behind the gender discrepancy of diagnoses.”

Research has shown that males exhibit higher prevalence of autism in comparison with females, but the reason for this gender discrepancy isn’t fully understood. One potential explanation is the presence of a protective factor in females that may be genetic, epigenetic, environmental, or a combination of multiple factors. Evidence shows that some females carry genetic deletions or duplications that are known causes of autism, yet these girls do not exhibit clinical symptoms of autism. Other studies have pointed to the presence of a higher genetic “load” for females to reach the autism threshold, compared to males. As a group, girls with autism tend to exhibit more severe symptoms and tend to be diagnosed later. These initial findings warrant a focused study of unaffected sisters of individuals with autism to try to identify this potential protective effect.

The Autism Sisters Project will focus on three areas:

 Data on unaffected sisters will be gathered from existing databases with rigorous behavioral phenotyping data on all family members, including unaffected siblings, beginning with samples in the Autism Sequencing Consortium;

 Funds will be provided to autism research sites so that sequencing and phenotyping can be expanded to include an unaffected sister in families where samples from parents and the individual diagnosed with autism have already been collected

 New families with a member who has autism and a female (and/or male) sibling without an ASD diagnosis will be recruited to the Icahn School of Medicine at Mount Sinai to donate saliva samples and all family members will participate in a full screening. Taking samples through saliva helps to broaden the reach to more families participating in research. A full DNA exome scan, among other analyses, will be performed on the entire family.

A special Scientific Committee has been appointed to oversee this project. The team is led by Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai, and includes experts in genetics, statistical genetics, epidemiology, and ASD clinicians. The other scientific committee members are: Somer Bishop, PhD (UCSF); Ed Cook, MD (University of Illinois at Chicago); Mark Daly, PhD (Harvard Medical School/Broad Institute); Bernie Devlin, PhD (University of Pittsburgh); Elise Robinson, PhD (Harvard Medical School); Kathryn Roeder, PhD (Carnegie Melon); Stephan Sanders, PhD (UCSF); Celine Saulnier, PhD (Marcus Autism Center at Emory); Paige Siper, PhD (Mount Sinai); Huda Zoghbi, PhD (Baylor); and Lonnie Zwaigenbaum, MD (University of Alberta).

To participate in the Autism Sisters Project, interested participants should contact the Seaver Autism Center by phone at 212-241-0961 or by email at theseavercenter@mssm.edu.

About the Autism Science Foundation:

The Autism Science Foundation (ASF) is a 501(c)(3) public charity. Its mission is to support autism research by providing funding to scientists and organizations conducting autism research. ASF also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism. To learn more about the Autism Science Foundation or to make a donation, visit www.autismsciencefoundation.org.

About the Hilibrand Foundation:

The Hilibrand Foundation is a private family foundation that was established in 1991 by Debbie and Larry Hilibrand. A key mission of the Foundation is to support scientific funding of autism research.