KdVSF Research

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.

Kool Klinic

Our flagship, Kool Klinic officially opened Spring 2026. Click the image to learn more!

Looking Ahead

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 by clicking on the graphic.

Get Involved Today

Natural History Study for KdVS

One of the most critical parts of being prepared for clinical trials is the establishment of a natural history - or how a particular disorder like KdVS - changes with age or sex or genetic condition.

In collaboration with several leading scientists and clinicians, the KdVS Foundation is launching a large-scale study of individuals diagnosed with Koolen-de Vries Syndrome. This study will include a series of in-person assessments, remote assessments, biofluid collections, EEGs. Some assessments will be completed once a year for a period of 3 years. Participation in ANY part of the study is completely VOLUNTARY.

Participation time varies based upon the particular task, but most assessments range from 5-45 minutes in length to complete. If you are interested in participating or have any questions regarding this study, please contact Ashley Point by clicking the button below.

Email Ashley

Simon's Searchlight

Studying genes that cause rare neurodevelopmental disorders

Simon’s Searchlight collects high-quality, standardized natural history data to learn more about rare neurodevelopmental disorders. They also build partnerships between researchers, industry and families.

You will even earn Amazon gift cards for your participation! Participating in this research will help us on our journey to become “research ready” and near a therapeutic treatment.

Patients' Data Powering Progress

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

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).

Study of motor skills and behavior

UCLA CHAMPION Study (Chromatinopathies and Autism: Motor Phenotyping and Indicators of Neurodevelopment)

Motor challenges tend to affect children who have KDVS or other Chromatin Modifying Disorders and this research hopes to develop better tools/methods to help identify, monitor, and evaluate delays as well as come up with better treatment and therapeutic options. Another goal of this study is to better understand the behavioral, cognitive, and social development of children with KDVS.

Differences in social functioning

We are recruiting children with a neurodevelopmental or neuropsychiatric condition, and those who are typically developing to participate in a research study to help understand children’s social abilities. Our goal is to develop and validate the Stanford Social Dimensions Scale 2 (SSDS-2), a new questionnaire measure designed to help researchers and clinicians better understand individual differences in different aspects of social functioning and motivation across different clinical populations.

Medical records made easy, research made possible

Citizen, by Invitae, tracks down all of your existing medical records and makes them digital. An easy-to-use digital platform allows you to access original notes and records from any institution you have visited. One link can be shared with your medical team or caregivers to allow better collaboration. Choose to share with researchers to champion future rare disease studies.

KdVS Foundation Biorepository

The KdVS Foundation has a biorepository that will collect, process and store various patient samples for KdVS scientists to use for their studies. Our biorepository, hosted by COMBINEDBrain, can store things such as blood, cerebrospinal fluid, urine, saliva and feces in addition to small tissue biopsies and even cells or cell lines made elsewhere. Tissue biopsies can be used to create fibroblasts and peripheral blood mononuclear cells (PBMCs) that can be isolated from blood samples. Both these cell types can be used to create stem cells and even neurons to study KdVS.

COMBINEDBrain Research Study

Join us in collecting information on what matters most to the Koolen de Vries syndrome community by participating in a 60-90 minute audio-recorded, conversational questionnaire.

Simons Searchlight: 2025 Quarterly Updates

Head on over to to our Research Summary page on Simons Searchlight’s website to download the latest quarterly research report.

Catch us in Action

The video below takes you inside a laboratory where Koolen-de Vries Syndrome research is happening right now! Hear 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).

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