Learn more about 16p11.2 Deletion and connect with other Simons Searchlight families with the resources below.
LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with 16p11.2 Deletion responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!
To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”
VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.
What does it mean to have a 16p11.2 deletion?
Genes provide our body’s instructions. Our body carries genes in structures called chromosomes. We have two copies of each chromosome, one from the birth father and one from the birth mother. Sometimes people are born with extra or missing sections of chromosomes. Extra or missing genetic material can impact health, learning, and behavior. The effects vary based on the location and size of the changes and what the genes there do.
People with 16p11.2 deletions are missing a section of one of their two chromosome 16s.
People with 16p11.2 deletions appear to have an increased risk for development problems, which may or may not include autism. The information available about 16p11.2 deletions is limited, and families and doctors share a critical need for more information. Simons Searchlight participants help doctors and scientists find new information about the effects of 16p11.2 deletions.
Research Article Summaries
Previous Registry Reports