2024 Research Opportunities Press Release

For Immediate Release

February 13, 2024

Koolen-de Vries Syndrome Foundation Funds Five Research Opportunities for 2024

WILMINGTON, N.C. – The Koolen-de Vries Syndrome (KdVS) Foundation is pleased to announce that it has awarded five 2024 Investigator grants to fund translational research that will accelerate the development of treatments for individuals with KdVS.  “We developed a Strategic Research Plan last year which identified a need to invest in translational research; and furthermore, to invest in research studies with direct clinical implications on our community” said Ashley Point, President of the KdVS Foundation. 

“This is an incredibly exciting time for the field of KdVS research. Not only has the number of KdVS investigators expanded internationally, but those investigators have demonstrated potential overlaps in treatment strategies across several rare disorders” said, Dr. Anna Pfalzer, Chief Scientific Officer for the KdVS Foundation.

Dr. Hellen Willsey is an Assistant Professor at University of California- San Francisco in the Weill Institute for Neurosciences. Dr. Willsey and her lab will be generating a frog model of KdVS to study molecular impairments in KdVS compared to healthy frogs. In addition to making new disease models for the KdVS community, she will test several FDA-approved compounds to determine whether any can increase Kansl1 expression – as a means to identify potential new treatment options in KdVS patients. Dr. Willsey was awarded $52,000 for her project titled “The Role of Kansl1 in Cilia.”

Dr. Jordan Wright is a postdoctoral researcher at the Murdoch Children’s Research Institute who will be investigating whether select small molecule compounds can correct molecular deficits in KdVS cell models. Many of these compounds are FDA-approved and if proven beneficial in cell models, could be investigated in animal models and ultimately, humans. Dr. Wright was awarded $40,000 for his project titled “Exploring the therapeutic potential of histone acetylation modifying compounds in human neuronal models of Koolen-de Vries Syndrome” 

Dr. Victor Faundez, MD and PhD, is a Professor at Emory University in the Department of Cell Biology. He has developed an expertise in discovering biomarkers of rare neurological diseases by using both basic research models as well as human samples. Dr. Faundez will be expanding his expertise into the field of KdVS by establishing a colony of KdVS mice.. Dr. Faundez will establish this mouse colony at Emory and will begin studying their behavior as a means to identify characteristics that can be corrected with experimental therapies. Dr. Faundez was awarded $57,000 for his project titled “Systemic Molecular Phenotypes in Koolen-de Vries Syndrome”

Dr. David Koolen and Dr. Bert de Vries will establish a Natural History Study at their local research and clinical institute at Radboud in the Netherlands. Drs. Koolen and de Vries and their research staff will conduct a series of clinical assessments and biological sample collections from KdVS patients as a means to establish a profile of the natural progression of KdVS with age. Drs. Koolen and de Vries were awarded $50,000 for their project, “The Natural history in Koolen-de Vries syndrome: an initial step towards personalised treatment”

Dr. Yann Herault is a Professor at the Institut de génétique et de biologie moléculaire et cellulaire. Dr. Herault established the first mouse models of KdVS – creating a model for both the microdeletion and Kansl1 variant patients. Dr. Herault will now develop a new model which expands upon our understanding of the previous mouse model to allow us to examine the age window for optimal therapeutic intervention in KdVS patients. Dr. Herault and his team were awarded $49,000 for their project, “RESKAN: Rescue Kansl1 Haploinsufficiency during early lifetime”. 

KdVS is a neurodevelopmental disorder caused by both microdeletions in the chromosomal region of 17q21.31 or mutations in the KANSL1 gene. Individuals diagnosed with KdVS may experience global developmental delays, cognitive and motor deficits, epilepsy, a variety of congenital musculoskeletal abnormalities, with emerging evidence of significant cardiac, immune and respiratory impairments. The prevalence is now estimated at 1 in 55,000 individuals.

The KdVS 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.  For more information please visit the KdVS Foundation website, www.kdvsfoundation.orgIf you would like to learn more about the Koolen-de Vries Syndrome Foundation, please contact Ashley Point at [email protected] or 704-342-1445.