The Koolen-de Vries Syndrome Foundation selected for the Rare Epilepsy Partnership Award

For Immediate Release

April 11, 2023

The Koolen-de Vries Syndrome Foundation selected for the Rare Epilepsy Partnership Award

WILMINGTON, N.C. – The Koolen-de Vries Syndrome (KdVS) Foundation has been awarded the Rare Epilepsy Partnership Award, a one-year $100,000 grant. This grant will support the development of necessary research tools, techniques, model systems and data collection platforms to stimulate and accelerate research on rare epilepsies. This award will be co-funded by CURE Epilepsy and the KdVS Foundation.

“We at the KdVS Foundation are thrilled to be selected for this important partnership opportunity,” KdVS Foundation President Ashley Point said. “The work completed by the research team at Radboud University Nijmegen Medical Centre has been instrumental in the advancement of research into KdVS. Further understanding and even possibly new therapeutic techniques can be made through research opportunities like that provided by the CURE Epilepsy-Rare Epilepsy Partnership Award.”

The grant funding will go to Hans von Bokhoven, PhD at Radboud University Nijmegen Medical Centre for his project titled “Increasing KANSL1 expression through modulation of endogenous anti-sense RNAs.” The grant is funded in partnership with CURE Epilepsy, whose portion is sponsored by the Robert Withrow Wier Fund.

KdVS is genetic syndrome involving the 17th chromosome and is caused by a microdeletion at 17q21.31 (including the KANSL1 gene) or mutation of the KANSL1 gene. It may cause developmental delays, learning difficulties and a number of other health concerns. The prevalence is now estimated at 1 in 55,000 individuals. The Koolen-de Vries Syndrome Foundation is dedicated to educating, increasing awareness and promoting research for the support and enrichment of individuals with KdVS and their families. In collaboration with their Medical Advisory Board, the Foundation works to provide the latest KdVS research, surveys, findings and medical advances.

If you would like to learn more about the Koolen-de Vries Syndrome Foundation, please contact Ashley Point at [email protected].

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