Project CASK, in collaboration with the Orphan Disease Center, is seeking proposals to advance research that supports therapeutic development for CASK gene disorders.
The X-linked CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK), which is primarily found in neurons and helps control the expression of other genes involved in brain development. Mutations on the CASK gene are currently associated with two disorders, microcephaly with pontine and cerebellar hypoplasia (MICPCH) and XL-ID with or without nystagmus. The spectrum of neurological phenotypes associated with CASK variants is broad and includes global developmental delays, intellectual disability, epilepsy, or other seizure disorders, hypotonia, swallowing or feeding challenges, hearing and vision issues, and other neurological symptoms.
Letter of Interest (LOI) Applications are Due Friday, February 16, 2024 by 8pm EST.
All individuals holding a faculty-level appointment at an academic institution or a senior position at a non-profit institution or foundation are eligible to respond to this RFA. Collaboration with existing CASK researchers is encouraged but not required.