Koolen-de Vries Syndrome Foundation Selects Clinical Fellow

For Immediate Release
February 10, 2022

Koolen-de Vries Syndrome Foundation Selects Clinical Fellow to Study the Use of Artificial Intelligence and
Speech Therapy in Assisting Clinicians in Diagnosing KdVS

WILMINGTON, N.C. – The Koolen-de Vries Syndrome Foundation has awarded Lex Dingemans of Radboud University Medical Center in Nijmegen, Netherlands a two year clinical fellowship grant. Dingemans will be working with the Koolen-de Vries Syndrome (KdVS) research team at Radboud UMC to improve the clinical diagnostics and insights into the clinical spectrum of KdVS. As a clinical geneticist in training, he is currently working on improving the facial recognition model for KdVS not only with 2D, but also with 3D photos.

“We are excited to add another diagnostic tool to the rare disease diagnostic odyssey. The KdVS Foundation hopes that this innovative research will lead to earlier diagnosis and a reduction in the worries and burdens of families and individuals waiting for an answer. Dingemans, the Radboud UMC team and Dr. Morgan continue to work hard to improve the lives of all living with Koolen-de Vries Syndrome,” KdVS Foundation President Ashley Point said.

In addition to the KdVS research team that includes Dr. Bert de Vries and Dr. David Koolen who discovered KdVS in 2006, Dingemans is working with Professor of Speech Pathology Angela Morgan of Murdoch Children’s Research Institute to see if voice data could also prove useful in diagnosing KdVS. By using several methods that can extract features from speech data, they will study whether they can distinguish syndromes based on the voice characteristics of patients.

Clinician fellow Lex Dingemans was born and raised in the South of the Netherlands. He attended medical school in Nijmegen, Netherlands because he wanted to help people. While completing an internship in Columbus, Ohio, USA, he discovered how AI was being used in the healthcare system and was immediately drawn to the idea that machines could be used to solve difficult medical problems. Once completing his medical studies, he started a residency in clinical genetics at the Radboud UMC, but paused his training for his current PhD project, studying KdVS.

KdVS is genetic syndrome involving the 17th chromosome and is caused by a microdeletion at 17q21.31 (including the KANSL1 gene) or mutation of the KANSL1 gene. It may cause developmental delays, learning difficulties and a number of other health concerns. The prevalence is now estimated at 1 in 55,000 individuals. The Koolen-de Vries Syndrome Foundation is dedicated to educating, increasing awareness and promoting research for the support and enrichment of individuals with KdVS and their families. In collaboration with their Medical Advisory Board, the Foundation works to provide the latest KdVS research, surveys, findings and medical advances.

If you would like to learn more about the Koolen-de Vries Syndrome Foundation, please contact Ashley Point at [email protected].