Autism Sisters Project Expanded
3 New Grants Awarded to Search for the 
Female Protective Effect
 
Researchers participating in the Autism Sisters Project 
met to plan and discuss study designs  

The Autism Science Foundation (ASF) announced the launch of three new multi-year research grants to expand the Autism Sisters Project at the University of California at San Francisco (UCSF) and the Broad Institute in Cambridge, MA. The Autism Sisters Project is an ASF initiative that explores the Female Protective Effect by studying autism families with an undiagnosed sister.  Multiple lines of scientific evidence now show that females with an autistic sibling may have protective or resilience factors to autism.
 
For years, scientists have reported higher autism prevalence in males, but the reason for this gender discrepancy isn't fully understood. One potential explanation is the presence of protective factors in females that may be genetic, epigenetic, environmental, or a combination of these.  Rese arch has shown 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 s isters of individuals with autism to try to identify this potential protective effect.
 
Somer Bishop, PhD
The three new re search efforts funded by ASF will utilize  data collect ed from families where a sister in the family does not have a diagno sis of ASD. Scientists will analyze thousands of families to  understand  the association between sex, phenoty pe and genetic mutation in all family  members.   Lead researchers will be Drs. Somer Bishop, assistant
Elis e Robinson, ScD
professor, and  Stephan  Sanders, associate professor at UCSF, and Dr. Elise Robinson, assistant professor at the Harvard T.H. Chan School of Public Health and an associate member of the Broad Institute of MIT and Harvard.
 
Stephan Sanders, BMBS, PhD
"We are excited to support this important work, which will help scientists understand not only risk factors, but also resilience factors in autism behaviors, as well as autism features in females," says Alycia Halladay, chief science officer of the Autism Science Foundation. "These researchers will work with data already collected, even as work continues at Mount Sinai School of Medicine to recruit more families to add to these datasets."
 
Funding for Drs. Bishop, Sanders and Robinson will allow them to analyze previously collected genetic and behavioral data to study the female protective effect in autism, specifically the genetic and behavioral features of sisters of individuals with ASD.  The unprecedented combination of datasets includes information from thousands of families contained in the Autism Sequencing Consortium as well as datasets such as the Autism Genetic Resource Exchange and the Baby Siblings Research Consortium.
 
The Autism Sisters Project focuses on three areas:
  • Data on unaffected sisters will be gathered from existing databases with rigorous behavioral phenotyping data on all family members, this funding will start in August.
  • New families with a member who has autism and a female sibling without an ASD diagnosis will be recruited to the Icahn School of Medicine at Mount Sinai to donate saliva samples and participate in a full screening. A full DNA exome scan, among other analyses, will be performed on the entire family. This was funded in 2016 and the study is ongoing.
  • In the future, 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.
The Autism Science Foundation is also providing financial support to the Seaver Autism Center at Mount Sinai School of Medicine to collect information on families that have not previously participated in a genetic research study.  Interested participants should contact the Seaver Autism Center at 212-241-0961 or theseavercenter@mssm.edu .

The Hilibrand Foundation provides major financial support for the Autism Sisters Project.  
 
                                                                        # # #

Autism Sisters Project Profiled in  Newsweek

The Autism Sisters Project,
Jennifer (left) and Sarah (right) Ross with their mother and ASF Chief Science Officer Dr. Alycia Halladay Ross (middle).
supported by the Autism Science Foundation and the Hilibrand Foundation, was recently profiled in  Newsweek.

The Autism Sisters Project is an exciting opportunity for unaffected sisters of individuals with autism to participate in research alongside their sibling(s) with autism, to help researchers understand the so-called "female protective effect," a theory for why more males than females have autism, and why autism is expressed differently in males than in females. This article and accompanying video segment featured ASF Chief Science Officer Dr. Alycia Halladay Ross with her two daughters.

Click here to read the article, "Autism Risk: Why Are Girls More Protected From Diagnosis?" and watch the video.
STAY CONNECTED: