NIH R01 · 2024
Personalized Functional Genomics for Mitochondrial Encephalopathy Gene Discovery
Project Summary Mitochondrial disease is a commonly occurring inherited condition, incidence 1/5000, which can affect every organ system and thus exhibits a broad range of clinical phenotypes. The most common are neurological and neuromuscular dysfunction that manifest as neurodegeneration, seizures, ataxia, chronic progressive external opthalmoplegia (CPEO), and hypotonia. Childhood-onset mitochondrial disease most often results from mutations in the nuclear genome; however, the majority of cases remain without a molecular diagnosis and no effective treatments thus underscoring the critical need to identify the genetic aberrations driving these disorders. We propose a personalized…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.