Sometimes a big medical problem requires a massive research effort. Scientists have done just that for osteoarthritis, a condition that could affect a billion people globally by 2050.
Their enormous effort could help identify existing drugs suitable to treat arthritis, develop new ones specifically targeted to the disease, and, eventually create tailored approaches based on an individual arthritis sufferer’s genetic makeup. These three approaches are essentially at different heights on the drug development tree.
The Impact of Osteoarthritis
Just how large was the study? For starters, scientists examined the genomes of 489,975 osteoarthritis patients and compared them to the genomes of 1,472,094 people living without the condition. In doing so, they found 962 genetic associations, 513 of which have not been previously reported. When the data dust settled, the scientists felt fairly confident that they had identified about 700 genes that contribute to osteoarthritis, the scientists report in the journal Nature.
Although such numbers can seem overwhelming, in this case they should also provoke optimism. First, they essentially reveal some pharmaceutical low-hanging fruit — genes that produce proteins that are already targeted by existing drugs — just ones not necessarily associated with osteoarthritis. This is good news, because those medicines would need less time and cost to test them for safety and efficacy, compared to brand new approaches. That means they could be prescribed to osteoarthritis patients relatively soon — at least in drug-development terms.
“With ten percent of our genetic targets already linked to approved drugs, we are now one step closer to accelerating the development of effective treatments for osteoarthritis," Eleftheria Zeggini, a scientist at Helmholtz Munich and an author of the study, said in a press release.
Read More: What Causes Arthritis and How to Prevent It
Breaking Arthritis Down into Processes and Genes
The researchers then identified eight biological processes that impact osteoarthritis development. These processes essentially represent drug targets a little higher up the drug development tree. Knowing what those processes are and understanding how they contribute to the disease could help develop new drugs.
“Our discovery suggests that targeted interventions regulating one or more of these eight processes could play another significant role in slowing or even halting disease progression,” Konstantinos Hatzikotoulas, also at Helmholtz and a co-author, said in the press release.
Personalized Osteoarthritis Therapy
Finally, since so many genes appear to be involved and are likely have some difference impacts from patient to patient, identifying each gene and understanding its specific role could lead to personalized therapy. These approaches are higher up on the drug development tree; scientists have been discussing the promises of personalized medicine since a draft of the human genome sequence was completed in 2000.
Although the promise of personalized medicine remains, a good bit of work will be required before such therapies become reality. But the study at least provides some promising starting points.
“Genetic variants associated with osteoarthritis risk are widespread across osteoarthritis patients,” Hatzikotoulas said in the release. “Our newly gained knowledge about them can enable improved patient selection for clinical trials and personalized medicine approaches.”
The study effectively could usher in short-, medium-, and long-term approaches to treat osteoarthritis. That’s pretty big news.
This article is not offering medical advice and should be used for informational purposes only.
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Before joining Discover Magazine, Paul Smaglik spent over 20 years as a science journalist, specializing in U.S. life science policy and global scientific career issues. He began his career in newspapers, but switched to scientific magazines. His work has appeared in publications including Science News, Science, Nature, and Scientific American.
