Rare diseases typically have trouble attracting funding for research. The BeHEARD (Helping Empower and Accelerate Research Discoveries) Rare Disease Science Challenge aims to change that, with the help of companies like Taconic. Sponsored by the Rare Genomics Institute, this global competition offers rare disease researchers grants to fund life science innovations. As a competition sponsor, Taconic used CRISPR gene editing to custom generate a mouse model carrying the genetic mutation found in multiple families with Vici Syndrome, a severe congenital disorder. Taconic then donated several Vici syndrome mice to two UK researchers, helping to further their studies on this debilitating disease.
The researchers are using these mice to validate how well the model replicates the disease's neurological and musculoskeletal symptoms. If their work proves successful, the research community will be poised to embark on an exciting next step: using our mouse model to screen drug candidates that could improve the quality of life for Vici syndrome patients.