Kleefstra syndrome is a rare genetic condition caused by a mutation of the EHMT1 gene. Patients have intellectual disabilities, speech impairments and various other neurological and physical abnormalities, including walking difficulties, heart defects, kidney/urological defects, respiratory infections and seizures. There is no treatment today, however, scientists know enough to work towards developing a drug. Funding is the biggest hurdle, but your donation can put a treatment within reach.
GeneSpark.org is looking to fund scientific research projects aimed at advancing research to reverse Kleefstra syndrome. Specifically, this fundraising initiative will look to fund a scientific research project aimed at conducting (or advancing knowledge towards) a screen of various chemical compound libraries, in order to identify potential lead candidates for drug development. This project may be extended to include testing of one or more already identified lead chemical compounds.
Kleefstra syndrome research is at a critical stage. Your efforts could help advance a treatment, which would allow patients and their families to live normal, fulfilling lives. The success of our efforts would benefit many patients living in the UK and abroad.