The Orphan Disease Center hosted a virtual Think Tank for CASK-related disorders on December 4th, 2023. During this research-focused meeting, we met with clinicians and scientists to discuss these group of genetic disorders that affect brain development. CASK-related disorders are caused by mutations in the CASK gene and are inherited in an X-linked manner. During this scientific Think Tank, we aimed to increase knowledge on these disorders by bringing together experts and key opinion leaders and create a road map for research in this area. Based on this knowledge, we will develop a grant program that will assure funding for investigators of CASK-associated diseases, in collaboration with the Project CASK Foundation.

The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases, such as CASK-related disorders. By bringing together experts, we encourage collaboration amongst these researchers to ultimately advance science in these otherwise neglected diseases.