Koolen-de Vries Syndrome: a journey from diagnosis to treatments-Reference-Cited by-同舟云学术

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

Published:2024-01 Issue: Volume:5 Page:
ISSN:2633-0040
Container-title:Therapeutic Advances in Rare Disease
language:en
Short-container-title:Therapeutic Advances in Rare Disease

Author:

Pfalzer Anna C.¹²^ORCID,Ivers Blake³,Haynam Alayna³,Drake Barbara³,Koolen David A.⁴,Kasri Nael Nadif⁴,de Vries Bert B. A.⁴,Mefford Heather C.⁵,Morgan Angela⁶,Bichell Terry Jo⁷,Simon Elijah⁷^ORCID,Terala Ananya⁷,Myers Kenneth A.⁸,Point Ashley³

Affiliation:

1. Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA

2. COMBINEDBrain, 1510 Old Hickory Boulevard, Brentwood, TN 37027, USA

3. Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA

4. Radboud University Medical Center, Nijmegen, the Netherlands

5. St Jude Children’s Research Hospital, Memphis, TN, USA

6. Murdoch Children’s Research Institute, Parkville, VIC, Australia

7. COMBINEDBrain, Brentwood, TN, USA

8. Research Institute of the McGill University Health Centre, Montreal, QC, Canada

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.

Publisher

SAGE Publications

Link

https://journals.sagepub.com/doi/pdf/10.1177/26330040241265414

Reference9 articles.

1. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

2. Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature

3. Koolen-de Vries syndrome associated with continuous spike-wave in sleep

4. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients