CENTER FOR FUNCTIONAL EVALUATION OF RARE VARIANTS (CFERV)
The overarching goal of the Center for Functional Evaluation of Rare Variants (CFERV) is to expand our understanding of the relationship between genetic variants and health consequences. Such understanding will lay the foundation for the design and execution of promising clinical trials of disease modifying therapies. A key hurdle in advancing our understanding is the lack of functional data that can be used to determine what impact the genetic variant has on cellular function and disease characteristics. CFERV will focus on filling this critical gap, and advance our understanding of both disease mechanism and therapeutic options. CFERV serves as a national clearing house for mutations in the glutamate receptor gene family (GRIN, GRIA, GRIK, and GRID), with the goal of providing experimental data on the functional consequences of each mutation. CFERV has clinical partners in all 50 states, as well as multiple international partners. These activities will catalyze more accurate diagnoses and suggest opportunities for applied precision medicine. The ultimate goal is to broaden the effort to include many gene families.