Scientists from deCODE genetics and Roche recently announced the mapping of the first gene with significant linkage to rheumatoid arthritis. The scientists will use the discovery as the basis for further research and development in both diagnostics and therapeutics.
The findings, combined with an existing knowledge on the links between variations in the gene and rheumatoid arthritis (RA), provide genetic markers that predict an increased risk of RA. This marks a large step towards the development of molecular diagnostic tools that may improve the diagnosis of RA, help recognize predisposition to the disease, as well as developing of novel prevention protocols.
Early recognition of disease will allow timely and more aggressive treatment that may minimize serious joint damage. The researchers believe that such diagnostic tools will play a key role in developing more targeted medicines. They will also use this information in their ongoing research to identify targets for the development of new therapeutic products.
“We believe that this breakthrough in the genetics of RA is an encouraging step towards the development of new methods for diagnosing, treating, and preventing RA,” said Kari Stefansson, CEO of deCODE genetics. “We are continuing our research to identify additional diagnostic markers and drug targets, and we are pleased that in Roche we have a partner with the expertise and commitment to help turn these discoveries into products that can improve the quality of life of RA patients.”
The study was conducted in two stages. The first stage involved physicians from the National University Hospital in Reykjavik, and more than 2500 volunteer patients and their relatives from more than 100 families across Iceland. The patients were screened for certain common variations in the gene that are known to be associated with an increased risk of developing RA. Data from a genome-wide scan of the members of this group were then analyzed and led to the identification of a well-defined genetic locus that is associated with additional risk of RA.
As research to identify and characterize the underlying gene and its disease-associated variants advances, the scientists hope to pinpoint new markers that can add additional predictive power to these encouraging results.
Currently, RA is primarily diagnosed on the basis of the clinical presentation, along with the presence of inflammatory serum markers such as rheumatoid factor, which may or may not be present