Unaffected Sisters, Autism Study from A Collaboration of Foundations

autism advocacySuccessful women are a force to be reckoned with in this day and age, and not just in the business world. Two women joined forces, and brought together their organizations, to try to discover a biological mechanism in females with ASD that masks their Autism symptoms.

Debbie Hilibrand, from the Hilibrand Foundation, and Alison Singer, from the Autism Science Foundation nonprofit, came together for a new project, called the Autism Sisters Project. Both women left their careers in New York City and founded educational and research projects because they are both mothers of children on the Autism spectrum.

The project was created because most cases showed that males displayed more autistic symptoms than females, but the studies focused on males and finding the relationship between the missing shank3 gene.

The concept that the Autism Sisters Project focuses on is called the “Female Protective Effect.” This refers to the idea that females with Autism have a mechanism that stops ASD genes and symptoms from being conveyed.

“This is the most exciting project that I’ve been involved with. It makes so much sense from a scientific standpoint,” Singer said. “What’s really novel here is that we’re looking at girls-we’ve always looked at the boys. In many cases, samples were collected on unaffected sisters but nothing was done for them. But now it turns out these unaffected sisters may hold the answers.”

The idea started with Singer and the Autism Science Foundation. They needed a larger DNA database of people that do not exhibit ASD symptoms, but have the autism gene, and this required funding. Once Singer approached Hilibrand for help, the HIlibrand Foundation supplied the additional funding and jumped on board with the project.

Trio DNA samples are being taken, which refers to a child and their two parents, in order to see if the child has any siblings, or “unaffected sisters.” They are also looking for fresh gene samples. The first saliva collection site is at Mount Sinai Hospital in New York, but they need 2,000 to 3,000 unaffected siblings’ samples to study the cell-deletion gene.

Written By: Nicole Caropolo

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