Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery.

ABSTRACT:

Background

Advances in next generation sequencing technologies have revolutionized our ability to discover the causes of rare genetic diseases. However, developing treatments for these diseases remains challenging. In fact, when we systematically analyze the US FDA orphan drug list, we find that only 8% of rare diseases have an FDA-designated drug. Our approach leverages three primary insights: first, diseases with gain-of-function mutations and late onset are more likely to have drug options; second, drugs are more often inhibitors than activators; and third, some disease-causing proteins can be rescued by allosteric activators in diseases due to loss-of-function mutations.

Results

We have developed a pipeline that combines natural language processing and human curation to

SUBMITTER: Chen B 

PROVIDER: S-EPMC5392956 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature