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 the Simons Searchlight Gene List.