NIH R01 · 2024
Genetic Diagnosis of Neurodevelopmental Disorders in India
ABSTRACT The incidence of children with inherited neurodevelopmental disorders (NDDs) is high in LMICs, and an enormous burden on heathcare resources. While individual inherited NDDs are rare, in aggregate they affect millions of people. Identifying the genetic etiology of NDDs is beneficial to families, communities and science. Genetic diagnosis allows families to recognize risk of recurrence, and act on anticipatory prognoses. Genetic discoveries drive public health policy aimed at reducing disease burden through community genetics. Genes that cause NDDs provide molecular insights into normal brain development and pathogenesis of disorders. Whole exome sequencing (WES) has risen to the…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.