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NIH Awards First R01 Grant for CDKL5 Study


The National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH) has awarded a five-year R01 research grant, entitled “Pathogenic Studies of CDKL5 Disorder,” to Dr. Zhaolan (Joe) Zhou, Principal Investigator (PI), at the University of Pennsylvania Perelman School of Medicine, and Dr. Douglas Coulter, co-PI, at the University of Pennsylvania Perelman School of Medicine and Children’s Hospital of Philadelphia. This is the first R01-type research grant awarded by NIH to focus specifically on CDKL5 Deficiency Disorder (CDD). This grant will support Dr. Zhou to investigate the molecular and cellular functions of CDKL5 in defined neuronal populations where CDKL5 is highly expressed, and will support Dr. Coulter to interrogate the neural circuit mechanisms by which selective loss of CDKL5 in defined neurons leads to CDD-related behavioral phenotypes.

The foundation of this work, such as conditional knockout studies of CDKL5 in selective neuronal populations, was enabled by grant support from the International Foundation for CDKL5 Research (IFCR) and the Loulou Foundation, and a recent Lab of the Year award from the Loulou Foundation to Dr. Zhou. This work has subsequently led to a key publication in the Journal of Neuroscience (Tang et al., 2017). The generous sharing of knockout, conditional knockout, and knockin mouse models bearing CDD-associated genetic mutations by Dr. Zhou has enabled multiple other studies on the mechanisms of behavioral and physiological deficits in mice lacking functional CDKL5 expression. These mouse models are currently available at the Jackson Laboratory without any restrictions.

The IFCR applauds the recognition by NINDS/NIH of Dr. Zhou’s seminal work in creating and analyzing mouse models of CDD, and is proud that early support of this work by the Foundation has led to the wider recognition of one of our community’s key researchers. We hope this serves as an inspiration to other researchers who are working to understand CDD and to advance therapeutic research for better treatments and cures.

****This single grant brings approximately $2.5m more into CDKL5 research and opens the door to more grant applications and hopefully funding for others*****