LOI - 2018 CDKL5 Program of Excellence Pilot Grant Program

LOIS is due Thursday, March 8th by 5pm EST. Please refer to the RFA for instructions and requirements for this submission located on our website at: http://orphandiseasecenter.med.upenn.edu/grant-opportunities

Eligibility
All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA. Biopharmaceutical companies are not eligible to apply, however, we will consider applications from contract research organizations who provide services that are responsive to the RFA.

Questions regarding the scientific content of potential projects can be directed to Dan Lavery at dlavery@upenn.edu; administrative queries should be sent to Samantha Charleston at scharle@upenn.edu.

Thank you,

James M. Wilson, MD, PhD
Rose H. Weiss Professor and Director, Orphan Disease Center
Professor of Medicine and Pediatrics
Director, Gene Therapy Program

Name Name Title First Last Suffix
Email
Name of University or Institution
Business Address Business Address
Street Address Address Line 2 City State / Province / Region Postal / Zip Code Country
Co-PI Name
Co-PI University or Institution
Which of these priorities, if any, does your application satisfy?

Which of these priorities, if any, does your application satisfy? 1) Novel therapeutic approaches for CDKL5 Deficiency Disorder (CDD), including but not limited to techniques in genome editing, RNA-based mechanisms, biologics, and small molecule repurposing. 2) Approaches to validate phenotypes in CDKL5 function or disease pathophysiology through rescue of phenotypic deficits with pharmacological or genetic / gene therapy techniques. Phenotypic reversal in rodent models will focus on the use of adult (2 months of age or older) animals. In particular, approaches are encouraged which allow the identification of individual CDKL5 protein isoforms (arising from alternative splicing, alternative promoter usage, or post-translational modifications) which can rescue these phenotypes. 3) Systems biology and computational modeling approaches to provide a deeper understanding of CDKL5 function, downstream effectors, signaling, protein:protein interactors, or modifiers, including regulators of CDKL5 gene expression (transcriptional, post-transcriptional/RNA processing, translational, post-translational). 4) Novel imaging and functional approaches to phenotyping CDD in pre-clinical models or the clinical setting. A non-exclusive list of topics that would be responsive to this RFA is listed here: a) Functional/structural MRI; diffusion tensor imaging (DTI) b) Magnetic resonance spectroscopy (MRS) c) Stimulus-induced event-related potentials: impact of CDKL5 genetic / gene therapy or pharmacological interventions on deficits in stimulus-induced event potentials (visual, auditory, or other) in CDD disease models 5) Discovery and validation of CDKL5 biomarkers and their translation to the clinical setting.
Format for the 1‐page LOI:
• Project Title
• PI and Co‐PIs, and associated institutions
• Overall goal of the project
• Why application is responsive to the RFA. Please note that the applicant will not be invited to submit a full application if relevance to the RFA is not clearly described in the LOI.
• Brief background
• Specific Aims provided as a brief list
• Requested resources in terms of 1 year of funding. The total award amount is $150,000 (including direct and indirect costs). It is strongly preferred that applicant institutions waive indirect costs allowing the total amount to go towards research, but indirect costs up to a maximum of 10% could be accepted in exceptional cases.

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