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Over 40 genetic links to rheumatoid arthritis offer new potential targets for therapy

The discovery of 40 new genetic links to rheumatoid arthritis opens the door to a personalized approach to treating the autoimmune disorder, allowing medications to target a person’s individual genetic make-up. One of Canada’s pre-eminent researchers, Dr. Kathy Siminovitch, the Director of the Office of Personalized Genomics and Innovative Medicine at Mount Sinai Hospital and a Senior Investigator at the hospital’s Lunenfeld-Tanenbaum Research Institute, played a leading role in the study which was published  in December in the world’s top science journal, Nature  

Rheumatoid arthritis is a leading cause of disability world-wide, afflicting up to one in a hundred individuals, according to World Health Organization estimates. About half of adults with the autoimmune disease are unable to work full time within 10 years of diagnosis. The findings of this study by an international consortium of researchers, including Drs. Siminovitch, offer new potential targets for therapy. 

The Lunenfeld-Tanenbaum team was uniquely equipped to cross-reference the genetic data of more than 100,000 individuals with analysis of patients treated at Mount Sinai’s Rebecca MacDonald Centre for Arthritis and Autoimmune Disease, the largest clinic in Canada devoted to the research and treatment of the disease.  

A key finding is that the genes whose variants indicate risk for rheumatoid arthritis overlap with genes involved in some cardiovascular diseases and cancers. “We can use this knowledge to figure out the molecular pathways of disease, and which drugs we already have (to treat cardiovascular disease, for instance) that might also be effective against rheumatoid arthritis,” says Dr. Siminovitch. “There is also the potential to develop new therapies targeted to some of the specific disease processes that are suggested by these genetic findings.” 

“We can also use this genetic information to treat people in an individualized way depending on which molecular pathway is involved in that person,” she says. “These findings give researchers a vast new body of knowledge that we can translate into clinical advances and personalized medicine for people with rheumatoid arthritis.”  Dr. Siminovitch's leadership role in the field of genetics, which is central to growing Mount Sinai's personalized medicine agenda, also includes the directorship of the Fred A. Litwin and Family Centre for Genetic Services at Mount Sinai and UHN,  and she holds the Sherman Family Research Chair in Genomic Medicine. She directs the UHN Gene Profiling Facility and the Toronto General Research Institute Genomic Medicine Division and is a Professor of Medicine at the University of Toronto.

For Canadian entrepreneur and philanthropic leader Rebecca MacDonald, who lives with rheumatoid arthritis, the discovery was welcoming news. “I am one of the few people in the world who has been able to achieve full remission as a result of the care that I received from Dr. Keystone. This new discovery gives me hope that more patients will one day be able to be effectively treated from this devastating condition,” said Ms. MacDonald.  Her transformational gift in 2002 enabled Mount Sinai to build the Rebecca MacDonald Centre for Arthritis and Autoimmune Diseases.