Joni Chu

Our mission is to improve the lives of those affected by KDM5C genetic variants through advocacy, research, education, & support for individuals and families. KDM5C is a master regulator gene that controls how other genes are turned on & off in our bodies. A variant or change in this gene causes dysregulation and impaired neural function in all parts of the body throughout a person’s lifetime. This makes it challenging to study and difficult to target for therapeutics. There are vast differences in the ways individuals with KDM5C genetic changes are impacted. Symptoms affect both males and females to various degrees of severity.