Understanding the role of chromatin modifiers in human development and disease started several years ago when I led a study first describing a novel genetic syndrome with global developmental delay and syndromic features that were caused by rare de novo mutations in the gene KAT6A. The KAT6A gene's major role is to acetylate histones and other proteins within a cell, allowing for the proper expression of RNA and proteins during human development. Within 2 years of publication, there are over 100 individuals known to be diagnosed with mutations in KAT6A, making it one of the more common causes of syndromic developmental delay.
We have an active research program around KAT6A and related genes, as mutations in chromatin modifier genes typically have similar features, suggesting a related etiology.
[More to come here]
Link to Patient Survey.
For patients, a great resource is the KAT6A Foundation website.
If you are interested in contacting Valerie Arboleda to hear about the labs on going research studies and how you might become involved, please fill out the form below.