Simons Searchlight is an initiative of the Simons Foundation Autism Research Initiative (SFARI) that aims to better understand genetic neurodevelopmental conditions, including those associated with autism spectrum disorder (ASD). The name change aims to better reflect the program’s mission to shed light on these conditions by building strong partnerships between researchers and families. In addition to the name, other changes include updating the community website, as well as streamlining the online registration process.
Another significant change includes the expansion of the number of rare genetic disorders studied. Over the past nine years, Simons Searchlight has studied 53 genes and four copy number variants (CNVs) associated with ASD and other neurodevelopmental conditions. Today, 159 genes and 19 CNVs are part of the Searchlight community.
This expansion has been made possible through new coordinated efforts with SPARK (Simons Foundation Powering Autism Research for Knowledge)2, a SFARI initiative that aims to recruit, engage and retain a community of 50,000 individuals with autism and their family members living in the United States. SPARK returns genetic findings to participants who are found to carry ASD risk variants.
SPARK participants who have received a genetic diagnosis — together with any individual (worldwide) who has been given a professional diagnosis for one of the genetic conditions that are being studied by Simons Searchlight — will now have the opportunity to join Simons Searchlight. Joining such a community enables families to find and engage with others with the same genetic condition as well as providing opportunities to connect with researchers and participate in studies aimed at bettering our understanding of these disorders and, in some cases, clinical trials to advance treatments.
Over 1,500 individuals with rare disorders and their families are currently registered in Simons Searchlight and more than 50 research papers have resulted from data collected from Searchlight families. These numbers are expected to grow significantly in the coming years, and so are the research opportunities for participants as well as investigators studying these conditions.
“Simons Searchlight is a community of incredibly dedicated researchers and families, who work together to improve the lives of those affected by these rare conditions,” says Wendy Chung, director of clinical research at SFARI, Principal Investigator of Simons Searchlight and SPARK, and the Kennedy Family Professor of Pediatrics in Medicine, Columbia University. “We are committed to maximizing their efforts to accelerate research on these conditions and are extremely proud that we have significantly expanded the number of genetic conditions that are now part of the Searchlight community.”
Families interested in finding out more about how to join the Simons Searchlight online community are encouraged to visit: https://www.simonssearchlight.org/.