Thinwa Receives CDKL5 Program of Excellence Pilot Grant

JUNE 3, 2025 - Josephine Thinwa, M.D., Ph.D., has received a $150,000 CDKL5 Program of Excellence Pilot Grant from the Orphan Disease Center and Loulou Foundation to support her research related to CDKL5 deficiency disorder, a rare brain development condition caused by a change in the CDLK5 gene.

CDKL5 helps the brain grow and work properly. Children with a CDLK5 deficiency often have trouble speaking, walking, and suffer from frequent seizures that are hard to treat. Scientists are still trying to understand how CDKL5 works inside cells, which makes finding a cure difficult.

Dr. Thinwa’s research focuses on how CDKL5 helps the body fight viruses, especially in the brain, but her work on viruses has also helped uncover ways in which CDKL5 helps the brain function.

“We have found that the immune system can change how much CDKL5 is made and how active it is in the brain,” Dr. Thinwa says. “When CDKL5 is missing, brain cells are more likely to die from viral infections. Interestingly, when cells are infected by a virus, they make more CDKL5 and activate it more. This seems to be caused by type I interferons – proteins that cells release to fight viruses.”

By studying large gene databases, Dr. Thinwa found that these interferons increase CDKL5 levels in many types of cells even outside the brain. Another similar protein, CDKL1, also increased, suggesting other related proteins might be controlled in the same way. This is important because very little is known about how CDKL5 is turned on or off in the brain. The funding will support Dr. Thinwa’s investigation into which interferons affect CDKL5 and how they change its behavior inside cells.