Findings will help lead to personalized therapies for common, complex illnesses characterized by abnormal immune responses
Scientists at Mount Sinai Hospital, in collaboration with researchers at the University of Toronto, University Health Network and McGill University have obtained significant new insights into the causes of rheumatoid arthritis (RA) and other autoimmune disorders including type 1 diabetes, lupus and Graves disease.
The findings represent a key initial step in realizing the full potential of genomics and personalized medicine.
In a study published online today in Nature Genetics, Dr. Katherine Siminovitch and her team identified the exact means by which an alteration in the gene PTPN22 increases risk for RA and other autoimmune disorders. The study used advanced genomics technologies that enable testing of millions of genetic markers in a single experiment to identify genes, such as PTPN22, that confer risk for disease.
The team then generated a mouse genetic model to show how the PTPN22 gene mutation impairs immune cell function and then validating their findings in humans, taking their discovery from the laboratory bench to the clinic.
The result: a more accurate understanding of how autoimmune conditions develop, and how new diagnostic tests and targeted therapies can be designed for better symptom control and potential cure.
"Our findings are particularly exciting because this study sets a new precedent for studying arthritis and other autoimmune disorders," said lead author Dr. Siminovitch, Senior Investigator and the Sherman Family Research Chair in Genomic Medicine at the Samuel Lunenfeld Research Institute of Mount Sinai Hospital, a professor at the University of Toronto, and Director of the Fred A. Litwin & Family Centre in Genetic Medicine.
"This is one of the first studies in which we have traced the steps that connect a specific genetic lesion to the development of a common, complex autoimmune condition."