Despite some advances in our understanding of the underlying genetic and molecular mechanisms of Kabuki syndrome, there are still many unanswered questions. There is still limited fundamental knowledge of the disease pathophysiology and how perturbations within the KMT2D and KDM6A pathways lead to the challenges that patients with Kabuki syndrome face.
We need to advance our scientific knowledge for the development of therapeutics to improve clinical outcomes and quality of life for all individuals with Kabuki syndrome of all age groups.
THE KSF Discovery Grant provides funding to accelerate Kabuki syndrome basic science research and the identification of 1+ new therapeutic opportunity (disease-causing target/pathway) through collaboration of a group of researchers from multiple institutions.