Use of patient mis sense mutations in SCN9A to increase our understanding of the structure and function of sodium channels

Lead Research Organisation: University of Cambridge
Department Name: Cambridge Institute for Medical Research


This project will explore the pathogenesis of missense mutations in the gene SCN9A encoding the protein NaV1.7. Bi-allelic non-functioning mutations in SCN9A cause Congenital Insensitivity to Pain (CIP) - where no pain is ever felt anywhere by affected individuals. The majority of CIP mutations are non-sense and thus cause no protein to be produced.
However the mis-sense mutations chosen from patients for this project are far more interesting and likely to reveal novel aspects of the trafficking, channel function or essential interacting partners of NaV1.7. I will define the pathogenic mechanism of each mutation and then explore their translational potential in developing analgesic therapies. Techniques involved in this project include single cell electrophysiology, cell and molecular biology, and the use of stem cell derived nociceptors. The studentship will be supervised jointly by Professor Geoff Woods at CIMR, who leads a team investigating the genetic basis of disorders of pain sensing; and Dr John Linley at MedImmune who leads an electrophysiology team exploring novel pain signalling mechanisms. This group is part of CamPain; a collaboration between University of Cambridge Departments working together to investigate the cellular and molecular basis of pain with the aim of improving pain management and treatment.

Studentship Projects

Project Reference Relationship Related To Start End Student Name
BB/N504142/1 29/08/2016 28/04/2021
1801406 Studentship BB/N504142/1 30/09/2016 29/09/2020 Nivedita Sarveswaran