Lines of research​

Research within the BIG group is organised into four closely connected research lines, covering the full trajectory from scientific discovery to clinical application. By integrating fundamental, epidemiological and clinical research, we aim to translate advances in musculoskeletal science into better prevention, diagnosis and personalised patient care.

Image: Backscatter SEM of Trabecular Bone by bone resorbing osteoclasts

Bone Biology and Mechanistic Research

Aim: Elucidate the cellular, molecular, and physiological mechanisms underlying the regulation of bone development, remodelling, adaptation, repair and disease.

Key activities

  • Characterise the mechanisms behind bone cell differentiation and underlying bone formation, degradation and regeneration.
  • Study the complex interactions between bone metastases and osteoblasts to identify new therapeutic approaches in bone metastases and potentially diagnostic profiles.
  • Investigate the molecular mechanisms behind rare, monogenic human diseases of disturbed bone matrix, mineral and metabolism.

Platform

  • Experimental disease models.
  • Mechanistic validation of human discoveries.
  • Therapeutic target identification.

Key scientific question

  • How do biological mechanisms drive skeletal health and disease?

Population Genomics, Imaging and Life-Course Epidemiology

Aim: Identify genetic, molecular, environmental, and lifestyle determinants of (musculo)skeletal traits and diseases throughout life using population-based cohorts and high-throughput genomic and imaging technologies.

Activities

  • GWAS and sequencing studies
  • Multi-omics analyses
  • Population Imaging
  • Life-course epidemiology
  • Biomarker discovery and risk prediction
  • Therapeutic target identification

 

Platform

  • Deep musculoskeletal phenotyping (imaging) core
  • Genomics core

 

Key Scientific question

  • Which determinants shape musculoskeletal health and disease across the life course?
mage: Mikael Häggström, M.D., CC0.

Rare and Atypical Skeletal Disorders

Aim: To improve understanding, diagnosis, and management of rare skeletal diseases and atypical presentations of common (musculo)skeletal disorders.

Key activities

  • unravel the genetic and non-genetic background of rare and complex disorders
  • develop novel biomarkers and diagnostic tools
  • test novel treatments through clinical trials

Platform

  • Bone expertise centrum
  • Rare disease registries (European network)
  • SINTER study

Key Scientific question

  • What can rare and atypical skeletal disorders teach about skeletal biology and personalized medicine?

Clinical Phenomics and Precision Skeletal Medicine

Aim: To integrate deep clinical phenotyping, imaging, genomics, and molecular profiling to improve diagnosis, prognosis, and treatment of patients with musculoskeletal diseases.

 

Key activities

  • Assembly of clinical cohorts (SINTER, Phosphate)
  • Seel phenotyping harmonization across outpatient clinics
  • Skeletal fragility associated with chronic diseases
  • Patient stratification and outcome prediction
  • Precision medicine implementation

 

Scientific question

  • How can integrated phenotyping improve clinical care and outcomes for musculoskeletal patients?