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“Give a Spit” to Help Scientists Uncover the “Female Protective Effect” for Autism

For years, we’ve known that four times as many boys as girls are diagnosed with autism. More recently, genetic research has surprisingly shown that the various genes that cause autism are equally distributed in boys and girls. So what explains this difference – why do some girls who have the exact same autism genes as their brothers never develop autism? What protects them?

image of DNA

To find the answers to these critical questions, the Autism Science Foundation – a not-for-profit organization dedicated to supporting and funding autism research – has launched the Autism Sisters Project, a search for what is referred to as autism’s “female protective effect.”

The Autism Sisters Project will give unaffected sisters of individuals with autism the chance to play an active part in accelerating research into the “female protective effect.” The goal is to build 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 genders. Once scientists know what causes that protection or resilience, they may be able to develop new drugs or therapies.

Here’s how it works: the Autism Sisters Project is seeking families that have a child with autism and an unaffected sibling. Taking part is easy and painless. All the siblings need to do is visit the Seaver Center at Mount Sinai Hospital in Manhattan, play some simple thinking and language computer games, take part in a basic assessment and then spit into a test tube. There’s no blood test – all the DNA is collected through that saliva sample. The researchers will take care of the rest!

“I don’t want to change my brother, but if there was something that I could do to help him, I know I definitely would,” said Evee Lopes, who participated in the study and whose brother Tommy has autism. “By participating in the Autism Sisters Project, I’m getting one step closer.”

The important genetic information that will be gathered from these new genetic samples will be added to information from earlier studies that included a non-diagnosed sibling. By pooling all this information, scientists will be able to study the “female protective effect” much more quickly and efficiently. The more information researchers have to work with, the better.

The project is being overseen by a scientific advisory panel led by Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai, along with experts in genetics, statistical genetics, epidemiology, and ASD clinicians.

“We’re learning more and more about how autism affects males and females differently, as well as the underlying factors behind these differences,” said Alycia Halladay, PhD, chief science officer of the Autism Science Foundation. “This is an exciting and promising opportunity to leverage that understanding for deeper research into potential factors that could have a significant impact on the lives of many people with autism. Right now, the limiting factor is a lack of genetic data. The Autism Sisters Project will help eliminate that barrier and rapidly move the science forward.”

“The female protective effect is a very important area of investigation in the autism research community and the Autism Sisters Project is going to jumpstart the process of developing a necessary cohort of unaffected female siblings,” said Dr. Buxbaum. “I, and all my colleagues at Mount Sinai, are thrilled to be partnering with the Autism Science Foundation on this initiative. This is an enormously exciting opportunity for sisters of individuals with autism to take a proactive role in advancing important research.”

The Hilibrand Foundation is partnering with the Autism Science Foundation on the Autism Sisters Project, providing major financial support for this research initiative. 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.

“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.”

The Autism Sisters Project is initially seeking participants in New Jersey, New York and Connecticut, with additional sites to be added in the US and data included from studies from outside of the U.S.

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

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