PHILADELPHIA – Ashley R. Winslow, PhD, has been named director of Neurogenetics for the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania. Winslow will direct the ODC’s Program of Excellence in CDKL5 deficiency, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. She has also been named chief scientific officer of the Loulou Foundation, the private foundation funding the Program.
The Program is accelerating translational research for therapeutic mechanisms in CDKL5 deficiency. Winslow will work 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,” said James Wilson, MD, PhD, director of the Orphan Disease Center and Gene Therapy Program at Penn.
In February 2016, the London-based LouLou Foundation and the ODC established the Program of Excellence to develop effective treatments for children with CDKL5 deficiency.
As part of the Program, the ODC and LouLou Foundation announce 11 new grants to leading scientific investigators at academic institutions around the world, including: 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.
The awardees were selected after a rigorous selection process and peer review of 37 received proposals. Each will receive $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.
This funding is in addition to multi-year grant awards focused on the biological understanding of CDKL5’s function in the brain and development given by the Foundation to the University of Dundee, the University of Edinburgh, and the University of Pennsylvania in 2015.
The establishment of the pilot grant program and the partnership between the LouLou Foundation and 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, academia, biopharm, patient advocacy groups, and the NIH are rethinking traditional models around translational research and clinical advancement,” Winslow said. “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.”
Winslow obtained her doctorate in medical genetics from the University of Cambridge, United Kingdom and completed a research fellowship in neuro-genetics and pathology at Harvard/ Massachusetts General Hospital. Prior to joining the ODC, Winslow was associate director of Neuroscience Genetics for Pfizer, World-Wide R&D, in Cambridge, Mass., 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.
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