Approved Research

Clinical and molecular heterogeneity of Kennedy's disease

Lay summary

Kennedy's disease is an incurable, male-specific disease that affects the muscles and fat metabolism. The genetic cause of Kennedy's disease is an expansion of a repeated DNA sequence in the Androgen Receptor gene. We recently discovered that the frequency of this DNA defect in the general population is 10 times more frequent than the reported Kennedy's disease prevalence.

We wish to use the largest cohort to date, the UK Biobank, to explain the gap between the frequency of the genetic defect and disease prevalence.

This will be important for understanding the different symptoms of Kennedy's disease in patients and the biology behind these. The findings from this work can be relevant not only for Kennedy's disease but also for other disorders.