The KdVS Foundation is, once again, proud to sponsor the 2020 Kool Kampaign for Research, where 100% of proceeds will be directed to current KdVS Research. It is through the success of previous Kampaigns that we have accomplished so much! We hope to surpass last year's numbers and continue to support the amazing doctors and experts who are making ground-breaking achievements in KdVS research.

Individuals with Koolen-de Vries Syndrome are directly impacted by this incredible science. Advances are helping us to find answers in the areas of epilepsy, speech and language development, scoliosis, 3D facial recognition, and more. It is through your generosity that we are able to learn more and enrich the lives of all individuals with KdVS.

A Glimpse into the Ongoing KDVS Research...

In 2019, we granted $70,000 to Dr. David Koolen and Dr. Bert de Vries. Part of these funds allowed for two PhD students, researching KdVS and the affected biological pathways. By using pluripotent stem cells (iNeurons) and RNA sequencing, the research team is creating a novel drug-identification approach that will prevent costly experimental drug screens, validate drugs at both epigenetic and functional level, and provide unprecedented insight into molecular mechanisms disrupted in KdVS. We hope to continue to fund this incredibly important and exciting project.

In July 2019, the KdVSF also granted $8,700 to continue the skin sample research project by providing stem cells, as mentioned above. Eight families, specifically with children with the KANSL1 mutation, participated in skin sample collection while attending the Patient Advocacy Summit in Park City, Utah.

In 2020, the KdVS Foundation approved a $5,200 grant to Dr. Ken Myers and Dr. Angela Morgan to study the white matter in KdVS brains through diffusion MRIs. Diffusion MRIs can identify aberrant cerebral connections and organization. Developing a better understanding of abnormal brain development in KdVS could allow for a better understanding of the disorder and perhaps eventually lead to treatment options.

Moving forward...

We have high hopes to continue the work that is ongoing, and to even accelerate the pace at which the research is moving! The Foundation looks forward to working with the Medical Advisory Board to explore new research opportunities and to continue to assess the needs of our community.

Thank you for your tremendous support! It is with much gratitude and appreciation that we are able to continue to make outstanding advances!

To learn more, please visit: www.kdvsfoundation.org

Please note, if you or a loved one is considering a larger gift, please contact us at donations@kdvsfoundation.org.