Examining the effect of gene mutations on the function of proteins and how this may contribute to the development of Kennedy’s disease.
Lead Investigator: Dr Catheryn Lim
Lead Institution: University of Oxford
MND Association Funding: £273,792*
Funding dates: April 2023 - March 2026
*Supported by The Lady Edith Wolfson Fellowship Programme
About the project
Kennedy’s disease (KD) is a disorder of motor neurons caused by a mutation in the gene encoding for a protein called the androgen receptor. Despite the genetic basis of KD being known for a long time, there is a lack of understanding of the biological mechanisms underlying the disease. This project will use animal and cell models of Kennedy’s disease to improve current understanding of how gene changes in the androgen receptor may lead to altered function of the receptor and the role this might play in the disease. Dr Lim will also screen for anti-sense oligonucleotides (short sequences of genetic material that can be used as gene therapies) to identify one that could reverse the changes and be a new potential therapy for the disease.
What does this mean for people living with MND?
This project will help to provide new insights into the underlying biology of Kennedy’s disease and increase current understanding of the role these gene mutations play in the disease. It could also help to reveal a new potential gene therapy for the disease which may target these gene changes and reverse their effects.
Resources
Project code: 978-799
