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

Authors Rubin BY, Anderson SL

Received 12 September 2017

Accepted for publication 27 October 2017

Published 15 December 2017 Volume 2017:10 Pages 95—103


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer

Berish Y Rubin, Sylvia L Anderson

Department of Biological Sciences, Fordham University, Bronx, NY, USA

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 of mouse models that recapitulate the impact of the mutation has allowed for the in-depth characterization of its impact on neuronal development and survival. The intense research focus on this disorder, while clearly benefiting the FD patient population, also serves as a model for the positive impact focused research efforts can have on the future of other genetic diseases. Here, we present the research advances and scientific breakthroughs that have changed and will continue to change the natural history of this centuries-old genetic disease.

Keywords: HSAN, splicing, MAO, tocotrienol, EGCG, Ashkenazi

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