UK-based LouLou Foundation and the Orphan Disease Centre (ODC) in the Perelman School of Medicine at the University of Pennsylvania have awarded 11 new grants for research on CDKL5 deficiency.
CDKL5 deficiency is a rare X-chromosome-linked genetic disorder that causes serious neuro-developmental impairment, as well as early-onset, difficult-to-control seizures.
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The grants were made only after a thorough selection process and peer review of 37 proposals received from renowned academic institutions across the globe.
The final recipients of the awards are scientific investigators at Imperial College London, University of Massachusetts Medical School, Baylor College of Medicine, Massachusetts General Hospital, Boston Children’s Hospital, Instituto Superiore di Sanità, University of Milan, University of California Davis Medical Centre, University of Insubria, and the University of Pennsylvania.
Each awardee will receive $150,000 grant money for more than one year to encourage translational research in key areas on CDKL5 deficiency, including validating pathways, drug screening, and therapeutic approaches.
The new grants will support the existing multi-year grant awards focused on the biological understanding of CDKL5’s function in the brain and development, made by Loulou Foundation last year to the University of Edinburgh, the University of Dundee and the University of Pennsylvania.
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By GlobalDataODC has appointed Dr Ashley R. Winslow as the director of Neurogenetics and the chief scientific officer of the Loulou Foundation.
Winslow will direct the CDKL5 Programme of Excellence, working with scientists and patient advocacy groups to understand CDKL5 deficiency, as well as to identify strategic partners in pharmaceutical and biotechnology.
Winslow said: "Driven by technological advances and unprecedented data access, groups such as academia, biopharm, patient advocacy groups, and the NIH are rethinking the traditional models around translational research and clinical advancement. It is a very exciting time to be in rare disease research.
"I look forward to working with the scientific community to accelerate therapeutic development and biological understanding for CDKL5 deficiency."
The new pilot grant programme and the collaboration between the LouLou Foundation and Penn ODC draws attention, as well as funding, for research on CDKL5 deficiency.
There are currently more than 1,200 documented CDKL5 cases worldwide.
