Memphis will serve as the site for family members, supporters and medical professionals to learn more about the rare genetic disorder,  Koolen-de Vries Syndrome, July 13-15.

 The syndrome bears the names of Dutch researchers David A Koolen MD, PhD and Bert de Vries MD, PhD, and is caused by a missing part of chromosome 17 (specifically, 17q21.31 microdeletion) or a defect in a single gene: the KANSL1-gene. The syndrome is a multisystem disorder characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system.

 Drs. Koolen and de Vries, who discovered the disorder, will be among a panel of international speakers that includes Angela Morgan Ph.D., Director of Research and Teaching in Speech Pathology at The University of Melbourne. The panel will also include a representative from the Radboud University Medical Center, Nijmegen, the Netherlands, who will present an update on the underlying mechanisms and molecular data regarding Koolen-de Vries Syndrome.

 “Our goal is to increase the knowledge about this syndrome so parents like us will not only be able to understand what is happening with their child, but be pro-active in the management of the condition,” said Laura Ralph, president of the Koolen-de Vries Syndrome Foundation. 

For more information regarding the summit, visit SupportingKdVS.org.