Our research within the UK Biobank focuses on leveraging this resource to:

• Identify novel genetic and environmental factors influencing both rare (monogenic) and common diseases.
• Investigate pleiotropic relationships across various traits to help refine and expand current molecular definitions of diseases.
• Develop and optimize polygenic risk scores to support clinicians in better managing patients with both monogenic and complex chronic conditions, enabling more accurate risk stratification and personalized treatment strategies.

By gaining deeper insights into the genetic mechanisms underlying disease, we aim to enhance clinical decision-making, particularly in areas like disease screening, diagnosis, prognosis, and treatment. Our group specifically investigates how modifiable risk factors influence musculoskeletal health and contribute to common diseases.

Our team has made significant contributions to understanding bone mineral density (BMD) using the UK Biobank data. In our initial study, we identified 203 genetic loci associated with estimated BMD (eBMD) from heel ultrasound. In a subsequent study with a larger sample size (N=426,924), this number was expanded to 518 loci, including 301 novel findings. These studies underscore the importance of large-scale genome-wide association studies (GWAS) and the potential they offer in uncovering new biological insights.