CDKL5 Research
The CDKL5 genetic disorder was first described in 2004, and initial research studies began shortly thereafter. Early research efforts have focused on small case series reports of individuals affected by CDKL5, as well as a few attempts to characterize the CDKL5 protein, and it’s interaction with other proteins in the brain, particularly the MECP2 protein in Rett Syndrome. No definitive conclusions were reached.
Several small case series reports have attempted to describe the physical characteristics of the disorder, and establish diagnostic criteria, however, these are based on a small number of patients, and conclusions are difficult to interpret.
The majority of published information on CDKL5 is in the medical and scientific literature, written specifically for those professionals.
Research on CDKL5 is in its infancy, in terms of the quantity of research projects, and the amount of money available for such research. Yet CDKL5 remains an exciting research challenge in the scientific community, and there is renewed interest in pursuing this genetic puzzle, especially as it relates to Rett Syndrome, infantile spasms and autism.
Our foundation aims to be at the forefront of CDKL5 research, and in collaboration with leading scientists, we are on the threshold.
Future research projects include:
- development of a mouse model of the CDKL5 gene mutations
- discovery of the primary and secondary targets of the cdkl5 protein
- further clarification of the association and interaction with the MECP2 protein
- natural history study of people affected by a cdkl5 mutation
- Trials of therapeutic interventions for either a cure or symptom-specififc remedies.