There are several ongoing research efforts. Through an IRB-approved study, we are actively enrolling individuals with KDM5A variants and their family members. We are collecting clinical information to characterize the spectrum of KDM5A-related phenotypes. We are also collecting blood samples from study participants to generate cell lines and to characterize the functional consequences of the identified variants. In addition, we are doing molecular experiments to gain insight on the function of KDM5A in the brain.
KDM5A