Genetic clue behind RA, autoimmune disorders identified
London: A team of scientists has found significant new clues to the development of rheumatoid arthritis (RA) and other autoimmune disorders including type 1 diabetes, lupus and Graves disease.
Using advanced genomics technologies, 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 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.
“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,” she added.
The study was recently published in the journal Nature Genetics.