IDefine awards project to develop advanced cell models of Kleefstra syndrome

IDefine has selected a team to develop advanced cell models of Kleefstra syndrome.  In an exciting new project, the laboratory of Angels Almenar-Queralt, an Assistant Professor in the Department of Pediatrics at UC San Diego, will develop sophisticated neural organoid models of Kleefstra syndrome under a $100k award from IDefine.  Dr. Almenar-Queralt was selected for this award in a competitive review of
applications to the previously released IDefine request for applications (RFA). For more on neural organoids, see the CSO corner article explaining the power of this approach.

This work will have multiple benefits to our community. First, it has the potential to provide a new level of understanding of the fundamental effects of Kleefstra syndrome on the human brain. Second, it could suggest particular cellular pathways that are affected in the syndrome, which might be targeted by future treatments.  Finally, once an organoid system has been developed and characterized, it can serve
as the basis for screening potential future treatments to see if they can “rescue” the deficits seen in KS organoids.

To develop the organoid models, the Almenar-Queralt lab will use the iPSC lines recently developed by IDefine. This project is just beginning, and we can’t wait to see what may be learned as the research moves forward. Stay tuned!