Federal Grant Award Summary

Cincinnati Children's Hospital Medical Center received a $441,375 Project Grant (R21) awarded on April 13, 2026, by the National Institute of Neurological Disorders and Stroke (NINDS) under the Extramural Research Programs in the Neurosciences and Neurological Disorders program (CFDA 93.853). The award funds research investigating phenotype-genotype relationships in tuberous sclerosis (TS), a rare genetic disorder caused by mutations in the TSC1/2 genes that regulate mammalian target of rapamycin (mTOR) signaling. The research will examine how distinct human TSC2 mutations contribute to variability in disease severity and neurological manifestations, including intractable epilepsy and autism, which represent major morbidity factors in affected children.

The project deliverables include development and implementation of a personalized medicine platform optimized for testing TSC2 mutations in infants newly diagnosed with tuberous sclerosis. This research addresses a priority focus area identified in the NIH Strategic Plan for TS Research by characterizing the biological consequences of primary TSC1/2 mutations and their correlation with disease severity outcomes. The investigation will test the hypothesis that distinct mutations contribute differential disease phenotypes, thereby advancing understanding of mechanisms underlying the highly variable clinical presentations observed in tuberous sclerosis patients. The award period extends through March 31, 2028.