From June 30 to July 1, members of the planned Collaborative Research Center (CRC) gathered for their annual retreat and strategic planning meeting, setting a collaborative course for ongoing investigations into reduced penetrance in neurogenetic disorders.
Reduced penetrance—where individuals carry pathogenic mutations without developing the associated disease—remains a central challenge in understanding the endogenous and exogenous modifiers, along with translational implications on personalized counseling and treatment. The meeting provided a platform to align research goals, discuss methodological approaches, and coordinate resources across disciplines.