Rare Epilepsy Partnership Award

Increasing KANSL1 Expression Through Modulation of Endogenous Anti-Sense RNAs

Hans von Bokhoven, PhD
Stichting Radboud Universitair Medisch Centrum (Radboudumc)

Koolen de Vries syndrome (KdVS) is caused by loss of one copy of the KANSL1 (KAT8 regulatory NSL complex subunit 1) gene leading to reduced levels of KANSL1 protein, a protein important for DNA regulation. KdVS syndrome is characterized by intellectual disability, epilepsy, hypotonia, and a variety of congenital malformation abnormalities including brain-specific morphological changes. 

Dr. von Bokhoven and his team propose to restore normal KANSL1 levels by increasing the activity of the other (normal) copy of the gene that is still present in cells of people with KdVS syndrome. They propose to do this through different genetic techniques using cells obtained from the blood of people with KdVS syndrome. Subsequently, they will also investigate whether increasing KANSL1 levels in cells can also restore their ability to form neural networks similar to those of control individuals.

In partnership with the Koolen-de Vries Syndrome (KdVS) Foundation.


This grant is sponsored by the Robert Withrow Wier Fund.