Genetic Disorders We Study
The genetic disorders we study are listed below. You’ll also find more information and resources about these conditions.
Click on a gene name and you will be directed to a page with information about that gene. Some genes have more information than others.
We are working on updating information for newly added genetic disorders on our list. More information about each gene or copy number variant, along with its associated symptoms, is available in “Genetics” section of MedlinePlus.
Download a copy of this list.
Copy Number Variants (CNVs)
A - C
D - F
G - I
J - L
M - O
P - R
S - U
V - Z
Why do we pick these genes?
Simons Searchlight studies rare genetic neurodevelopmental disorders. We are committed to learning as much as we can about these genetic contributions to these conditions. We know that you may have many questions as you learn about your and your child’s genetic diagnosis.
The list of genes that Simons Searchlight studies changes over time. We continue to add or subtract genes as new information is learned about genes that are associated with neurodevelopmental disorders, including autism spectrum disorder. This list is influenced by new research and publications and is coordinated with the SPARK gene list. The genes that Simons Searchlight studies are determined by a team of geneticists, genetic counselors, medical professionals, and leading researchers.
Reliable information about what some genetic variants mean isn’t always available. With your help, we will be able to provide more information in the future to people with a genetic variant in the genes listed above.
If your or your child’s gene or CNV is not on our list, please fill out our Gene List Addition Request Form, to be considered by our genetics committee.