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Koolen-de Vries Syndrome: a journey from diagnosis to treatments.

Authors :: Pfalzer AC
Ivers B
Haynam A
Drake B
Koolen DA
Kasri NN
de Vries BBA
Mefford HC
Morgan A
Bichell TJ
Simon E
Terala A
Myers KA
Point A
Source :: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 Jul 28; Vol. 5, pp. 26330040241265414. Date of Electronic Publication: 2024 Jul 28 (Print Publication: 2024).
Publication Year :: 2024
Abstract: The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this aim, the foundation has focused on: developing scientific resources through patient cell and animal models, providing seed funding to basic and clinical researchers, establishing a natural history study of KdVS and increasing patient engagement. Projects have been prioritized across these areas of focus with an emphasis on expanding international research on KdVS, supporting translational research, establishing an international natural history study and conducting studies to assess patient priorities. With the incredible growth amongst our research and patient community in the last decade, our goal is to have our first clinical trial for KdVS in 2026.<br />Competing Interests: The authors declare that there is no conflict of interest. All material generated by the Foundation will be provided to interested researchers upon request or already available on the Foundation website.8<br /> (© The Author(s), 2024.)