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.

Direction Moving Forward

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.

Click image to download.
Click image to download.

You can get involved today!

Ocular Manifestations of Koolen-de Vries Syndrome

Study Opportunity

All participants are invited to share ophthalmic data and to fill out an ocular questionnaire. Such data include ophthalmic exams, medical records, doctor visit summaries, test results, clinical photographs (can be limited to the ocular region), and data regarding the type of the genetic variant (the latter will be shared with GenIDA).

Koolen-de Vries Syndrome Speech Tracker

Research into speech & language development over time

KdVS Individuals needed for Speech Study! In this new study by the Centre of Research Excellence in Speech and Language, speech and language are being examined over time to help provide researchers to better understand prognosis and will help us develop more targeted speech therapies Do you or a loved one meet the following criteria?

The FaceMatch Project

Searching for a diagnosis

To the parents and carers of children and adults with Koolen-de Vries Syndrome
We are contacting families with a confirmed genetic diagnosis to consider participation in the FaceMatch research project. The FaceMatch project is using computer face-matching technology to help find a diagnosis for children with intellectual disability (ID) where genetic testing has not provided an answer.

The CRID (Clinical Research ID)

Unique Universal ID for Patients Involved in Clinical Research

To ready the Koolen-de Vries Syndrome community for clinical research, we encourage patients to generate a unique universal ID. Patients can then decide which researchers they wish to share their unique identifier with. Researchers can then reuse, merge and share your research data without using your PII (Personally Identifiable Information) or PHI (Protected Health Information).


Patients' Data Powering Progress

RARE-X is a collaborative platform for global data sharing and analysis to accelerate treatments for rare disease.



Genetic of Intellectual Disability and Spectrum Disorders

GENIDA – which stands for Genetically determined Intellectual Disabilities and Autisum Spectrum Disorders – collects health data and medical history on individuals diagnosed with a multitude of conditions. Dr. Koolen has worked closely with GENIDA to craft a series of questions to capture this data. The data is analyzed and helps us to better understand and characterize the syndrome.

Dysautonomia Study

If a KdVS individual is experiencing Dysautonomia, please contact Dr. Myers at 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.

KdVS Drug Therapy Research

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.

Completed Research

Epilespy in Koolen-de Vries Syndrome

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.

Speech and Language Research

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.

Spinal Deformities Study

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).