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.

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.

International Speech & Language Study

Prof. Angela Morgan and Miya St John are currently researching speech and language in individuals with Koolen-de Vries Syndrome. They hope to improve understanding of speech and language abilities in those living with KdVS and improve prognoses, better identify individuals in need of speech therapy and develop more targeted therapies.

This study is open to individuals who:

  • confirmed to have KdVS by a genetic test
  • aged 6 months through adulthood
  • who are verbal or non-verbal
  • who speak English, German, Dutch, Italian, French, Portugese, Spanish

The study consists of mostly online surveys and English speakers will be assess via a videoconference also.

**If you attended the 2019 Patient Advocacy Summit in Park City, Utah, you may already have joined the study. Feel free to email Miya St John with any questions.**

Get involved by emailing Miya St John at


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.

About GenIDA

This research opportunity is open to ALL individuals diagnosed with Koolen-de Vries Syndrome. Parents and caregivers are encouraged to sign-up with GenIDA and enter medical information regarding their child’s health history. As of November 2018, over 200 families have signed up and started entering data. KdVS Foundation is excited to see the community getting involved. Sharing this data with GenIDA and Drs. Koolen and de Vries is a critical step in further characterizing and understanding Koolen-de Vries Syndrome. Please read the statement from Dr. Koolen below and then sign-up today! Already signed up for GenIDA? Don’t forget to:

  • Log-in and complete the questionnaire
  • Set yourself a reminder to update information.

Read more about GenIDA on their website. Follow GenIDA on Facebook for periodic updates.

“We encourage parents to share clinical information on their child via GenIDA. GenIDA is a family-oriented international online clinical database that collects medically relevant information on individuals with a rare genetic condition. It is a robust system that allows us to perform extensive data analysis. By means of using the digital opportunities of today, a unique chance now comes up to collect a large number of international data on the KdVS. The information is entered and updated via the parents / families and is crucial for the delineation of the clinical spectrum of many rare and previously unrecognized medical conditions. In fact, the parents are the expert and have answers to many questions. It is up to researchers and clinicians to collect, to summarize, and to interpret the data. By doing so we can describe the full spectrum of clinical features including longitudinal data. This might provide tools for tailor-made clinical follow-up, management protocols and, where possible, appropriate therapy. We are confident that such collected data can produce extremely useful information.

This important data can only be collected if you cooperate in providing this information. A huge advantage of this registry is the fact that questionnaires are available in different languages (e.g. Dutch, English, French, Portuguese), so the information can reach a broad audience internationally. The confidentiality of the provided data is guaranteed and for KdVS there has been so much information provided that useful information can be generated from the registry already.

Please help us to collect and make record of the symptoms and course of KdVS by means of completing the registry. You can create your account at:

Thank you, Dr. David Koolen``

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).