LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

Jul 5 2016

CDKL5 deficiency causes severe neurodevelopmental impairment, seizures

LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. This follows their announcement in February 2016 of a Program of Excellence to develop effective treatments for children with the disorder.

The grants were made following a rigorous selection process and peer review of 37 proposals received from renowned academic institutions around the world. The final awardees include leading scientific investigators at: Baylor College of Medicine, Boston Children’s Hospital, Imperial College London, Instituto Superiore di Sanità, Massachusetts General Hospital, University of California Davis Medical Center, University of Insubria, University of Massachusetts Medical School, University of Milan, and the University of Pennsylvania.

Each grant awardee will receive US$150,000 over one year to initiate novel translational research on CDKL5 deficiency, in key areas including drug screening, validating pathways, and novel therapeutic approaches. The new grants are in addition to substantial multi-year grant awards focused on the biological understanding of CDKL5’s function in the brain and development, made by Loulou Foundation in 2015 to the University of Dundee, the University of Edinburgh, and the University of Pennsylvania, which will now be joined to the Program.

Ashley R. Winslow, PhD, has also been named director of Neurogenetics for the ODC as well as Chief Scientific Officer of the Loulou Foundation. Winslow will direct the CDKL5 Program of Excellence, working with scientists and patient advocacy groups to develop a research strategy to fill key gaps in understanding CDKL5 deficiency, as well as to identify strategic partners in pharma and biotech.

“Ashley has an outstanding blend of academic credentials and industry experience that will be vital in shaping a research agenda for CDKL5 deficiency,” says Prof. James Wilson, Director of the Orphan Disease Center and Gene Therapy Program at UPenn.

The establishment of the Pilot Grant Program and the partnership between the LouLou Foundation and Penn ODC brings much-needed attention and funding for research on CDKL5 deficiency. There are currently more than 1,200 documented CDKL5 cases worldwide, with the number of identified patients increasing as genetic testing for the disorder becomes more common.

“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,” says Ashley Winslow.

Winslow obtained her doctorate in Medical Genetics from the University of Cambridge and completed a Research Fellowship in neuro-genetics and pathology at Harvard University/ Massachusetts General Hospital. Prior to joining the ODC at Penn, Winslow was Associate Director of Neuroscience Genetics for Pfizer, World-Wide R&D, where she led efforts to integrate genomic, clinical, and biomarker datasets in order to establish data-driven approaches to target discovery and innovative clinical study design.