Osteoarthritis Genetic Targets Identified in Largest Study

In a groundbreaking achievement, researchers have mapped new osteoarthritis genetic targets, offering fresh hope for millions suffering from the disease. The findings, published in Nature, come from the largest and most diverse musculoskeletal genetic study to date, analyzing data from nearly 2 million individuals across the globe.

Key Discoveries: New Genetic Variants and Drug Opportunities

Led by Helmholtz Munich, in collaboration with Rush University Medical Center and 125 top academic institutions, the study uncovered 962 genetic variants linked to osteoarthritis. Critically, researchers identified 69 key genes whose protein products are already targeted by 473 approved drugs—creating a unique opportunity to repurpose existing medications for osteoarthritis treatment.

“Osteoarthritis patients have long awaited disease-modifying therapies. This research is a major leap forward,” said Dino Samartzis, DSc, co-author and professor at Rush. “By leveraging human genetics, we can finally reimagine the management of this joint disease with much greater precision.”

Osteoarthritis: A Growing Global Health Burden

Osteoarthritis, distinct from rheumatoid arthritis, arises from the gradual breakdown of joint cartilage. It is the leading cause of chronic pain, reduced mobility, and disability globally, currently affecting over 600 million people and projected to impact 1 billion by 2050. Economically, the disease costs the U.S. nearly $486 billion annually and Europe up to €817 billion.

Moving Beyond Symptom Management

Historically, osteoarthritis treatments have focused on pain relief and maintaining mobility. No approved therapies have been able to stop or reverse the disease. However, these new genetic insights could change that landscape dramatically.

“With 10% of the genetic targets already connected to existing drugs, we’re poised to accelerate transformative treatments,” said Eleftheria Zeggini, BSc, co-author and director at Helmholtz Munich. “This is precision medicine in action—bringing new hope to millions.”

The Future: Personalized Medicine and Global Collaboration

Beyond drug repurposing, the study emphasizes the urgent need for broader genetic research across diverse populations. A deeper, tissue-level molecular understanding will be key to developing personalized therapies that address osteoarthritis at its root.

“As orthopedic specialists, we see daily how osteoarthritis steals quality of life,” added Brian Cole, MD, professor at Rush. “This research brings us closer to treatments that not only relieve symptoms but also repair and preserve joint health.”

Conclusion: A New Era for Osteoarthritis Care

In an inspiring show of global collaboration, researchers and clinicians have united to transform osteoarthritis treatment for generations to come. By focusing on genetic pathways and existing drugs, the path toward disease-modifying therapies is now clearer—and much closer to reality.

For more information: Hatzikotoulas, K., et al. (2025). Translational genomics of osteoarthritis in 1,962,069 individuals. Nature. doi.org/10.1038/s41586-025-08771-z.