Research is an important part of the mission of Koolen-de Vries Syndrome Foundation. Koolen-de Vries Syndrome (KdVS) was first identified in 2006 and we are still in the early stages of characterizing, refining and understanding the syndrome. This page contains current research, videos regarding research and summary of completed research.
In 2021, the KdVS Foundation began working with COMBINEDBrain's Rent-a-Neuroscientist program. COMBINEDBrain corresponded with current, past and prospective KdVS researchers to gain a thorough understanding of the syndrome and the research that is being or has been done. There were many Zoom calls, emails, questions and follow-ups with researchers from around the world. Download a copy of the 2022 KdVS Research Strategic Plan below.
If a KdVS individual is experiencing Dysautonomia, please contact Dr. Myers at Kenneth.email@example.com. What is Dysautonomia? It is unusual periods of nausea/vomiting, dramatic changes in heart rate, sweating/pallor/clammy skin, temperature dysregulation. All not clearly related to seizures.
The video below takes you inside a laboratory where Koolen-de Vries Syndrome research is happening right now! Here from KdVS Foundation President, Ashley Point, as well as KdVS researchers.
In 2015, at a KdVS gathering in Asheville, North Carolina, USA, skin cells (fibroblasts) were collected from a number of individuals diagnosed with Koolen-de Vries Syndrome. This research project will focus on selecting potential drugs that will be tested on neurons made from the skin cells samples.
Koolen-de Vries Syndrome Foundation is focused on supporting this research and in 2018, with the help of many dedicated families, friends and supporters, we raised and sent $50,000 USD to help fund this project.
As this research project will be both challenging and lengthy, the Foundation will continue to promote and raise funds for this project. At the 2017 KdVS Patient Advocacy Summit, Katrin Linda, a PhD student working on this research project, provided a summary and up date to families in attendance.
To read the 2017 research update presented by Katrin Linda at the KdVS Patient Advocacy Summit, please click here.
A big Thank You to the researchers for providing us this explanatory video and allowing us to share it.
The results of this epilepsy study are now published online in the journal Epilepsia. Epilepsia is the top-ranked epilepsy journal in the world. Please share the following citation with your neurologist so that they are alerted to the most recently published data regarding epilepsy and Koolen-de Vries Syndrome. Article published here.
Myers et al (2017). The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. Epilepsia.
Professor Angela Morgan with the Hearing, Language and Literacy Group at Murdoch Children’s Research Institute in Melbourne, Australia completed an initial research project on speech and language difficulties in children, adolescents and adults diagnosed with Koolen-de Vries Syndrome.
This research was published in the European Journal of Human Genetics in 2017. Click here to access Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.
Dr. David A. Koolen and project coordinator Arianne Bouman of Radboud University Medical Center have completed collecting data for their research study “Spinal deformities in patients with Koolen-de Vries Syndrome”. The purpose of this study is to gain insight in prevalence and clinical and radiological features of these spinal deformities (such as scoliosis, kyphosis, lordosis).