IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.

ABSTRACT: The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders. The identification of the mutations that cause familial dysautonomia (FD), an autosomal recessive disorder that impacts sensory and autonomic neurons, was aided by the release of the human DNA sequence. The identification and characterization of the genetic cause of FD have changed the natural history of this disease. Genetic testing programs, which were established shortly after the disease-causing mutations were identified, have almost completely eliminated the birth of children with this disorder. Characterization of the principal disease-causing mutation has led to the development of therapeutic modalities that ameliorate its effect, while the development

SUBMITTER: Rubin BY 

PROVIDER: S-EPMC5735983 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature