Article
Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.
Clinical genetics - 1 Oct 2012
Goldberg Y P, Pimstone S N, Namdari R, Price N, Cohen C, Sherrington R P, Hayden M R
Abstract excerpt
We have utilized a novel application of human genetics, illuminating the important role that rare genetic disorders can play in the development of novel drugs that may be of relevance for the treatment of both rare and common diseases. By studying a very rare Mendelian disorder of absent pain perception, congenital indifference to pain, we have defined Nav1.7 (endocded by SCN9A) as a critical and novel target for...
Topics
- Analgesics
- Drug Discovery
- Erythromelalgia
- Humans
- Mutation
- NAV1.7 Voltage-Gated Sodium Channel
- Pain Insensitivity, Congenital
- Voltage-Gated Sodium Channel Blockers