The central thematic of our research programme is to identify novel pathological pathways that contribute to the pathophysiology of rare genetic neuromuscular and skeletal diseases and to investigate novel therapeutic approaches using a combination of omics, bioinformatics drug repurposing strategies and dietary interventions.

Our current projects are:

1. Performing a comprehensive analysis of metabolic and circadian perturbations in SMA.

2. Investigating the role of brown adipose tissue in SMA.

3. Developing combinatorial therapeutic approaches for SMA therapy.

4. Establishing and characterizing a novel mouse model for Acrodysostosis Type 2.

5. Evaluating novel treatments for Acrodysostosis Type 2.

6. Using deep neural networks to establish a novel non-invasive and sensitive motor skill assessment tool for pre-clinical mouse models of muscle-wasting conditions.

7. Investigating muscle extracellular vesicles as biomarkers in SMA.

8. Defining the role of skeletal muscle in metabolic defects in SMA.

 Current and past research in the Bowerman lab funded by:

• The SMA Trust

• Muscular Dystrophy Ireland

• MRCG-HRB

• The Gwendolyn Strong Foundation

• Fight SMA

• SMA Angels Charity

• Association Française contre les Myopathies

• Muscular Dystrophy UK

• Action Medical Research

• SMA UK

• Genome Editing Mice for Medicine

• Academy of Medical Sciences

• Medical Research Council

• Cure SMA

• Great Ormond Street Hospital Charity