Approved Research

Unraveling Genetic Modifiers in Neuromuscular Disorders and Muscle Function - A Comprehensive Analysis Using UK Biobank Data

Lay summary

We aim to identify genetic modifiers influencing neuromuscular disorders through a comprehensive analysis using UK Biobank (UKBB) data. The objectives are as follows:

Feasibility Assessment: Evaluate the representation of neuromuscular diseases and relevant muscle features in the UKBB dataset, including measurements and volunteers with these conditions.

Phenotype-Phenotype Analysis: Examine internal consistency of muscle traits within-subjects, investigating relationships between various muscle measurements, sarcopenia, and extremely low skeletal muscle index (SMI).

GWAS and Whole Exome Analysis: Perform GWAS and whole exome analysis on variables such as sarcopenia code status, continuous SMI, and very low SMI, and associations between muscle traits and outcomes (falls, fractures, hospital visits) in individuals with low muscle function.

Neuromuscular disorders significantly affect quality of life and burden healthcare systems. The UKBB's diverse dataset provides an opportunity to study genetic factors, muscle function, and neuromuscular disorders. The researchers seek to identify genetic modifiers influencing muscle function and neuromuscular diseases. This project advances our understanding of neuromuscular disorders, informing targeted interventions and personalized treatment.

The research comprises three phases:

Feasibility Assessment: Evaluate project feasibility, focusing on variables like grip strength, lung function, sarcopenia code status, and SMI.

Pilot Phase: Analyze muscle trait relationships and connections with neuromuscular disorders in-depth.

Final Phase: Perform GWAS and whole exome analysis, identifying genetic modifiers for neuromuscular diseases and their impact on muscle function and any other outcomes.

The project's public health potential:

Understanding Neuromuscular Disorders: Identifying genetic modifiers enhances understanding of biological mechanisms underlying neuromuscular diseases.

Personalized Treatment: Genetic insights enable targeted therapies, improving treatment and reducing disease progression.

Early Detection: Identifying muscle function proxies aids early detection and intervention for better neuromuscular disorder management.

Optimized Resource Allocation: Informed interventions reduce healthcare costs for those at risk of neuromuscular-related complications.

Precision Medicine: Findings contribute to precision medicine, enhancing personalized healthcare strategies.

Overall, this research project has the potential to significantly advance our knowledge of neuromuscular disorders, improving patient outcomes, and reducing healthcare burdens.