SBMA

Neurol Genet 2021 Jul 7;7(4):e607.  

Spinal and Bulbar Muscular Atrophy (SBMA), also known as Kennedy's disease, is a genetic disorder that mainly affects males and causes progressive degeneration of motor neurons. This leads to a significant decline in quality of life. A recent study, led by my graduate student, has discovered a high prevalence of SBMA in Indigenous communities in Western Canada. Unfortunately, current treatments do not effectively target the genetic cause of SBMA, leaving the needs of Indigenous individuals with the condition unmet.

Building upon our previous success in treating muscular dystrophy using a type of synthetic molecule called Antisense Oligonucleotides (ASOs), which have been approved by the FDA, our project aims to develop ASO-based therapy for SBMA. We will focus on the genetic variations found in Indigenous communities to address the specific medical requirements of SBMA patients.

Here's why this project is significant: ASOs are synthetic molecules that resemble DNA and can precisely target and bind to specific RNA molecules. By doing so, they can control gene expression by either blocking protein production or promoting the degradation of RNA. In our research, we will concentrate on developing ASOs that target the expanded CAG repeat in the androgen receptor (AR) gene, which is a key factor in the development of SBMA. We are evaluating the effectiveness of these ASOs using cell and animal models, with the potential to pave the way for future clinical trials. Ultimately, our goal is to fill an important gap in SBMA therapy and greatly improve the lives of Indigenous individuals affected by this debilitating condition.

Last updated: 7 June, 2023