Genetic “Road Map” to Liver Disease Discovered

Mount Sinai Hospital’s Dr. Katherine Siminovitch has discovered a new genetic pathway (a gene “road map”) that could provide personalized treatment options for patients with a devastating liver disease. The study also offers great hope in treating other autoimmune diseases such as rheumatoid arthritis.

	Dr. Katherine Siminovitch

“This finding provides the very first clues into the causes of primary biliary cirrhosis and gives us new ideas for treating this and many other autoimmune diseases that affect so many Canadians,” says Dr. Siminovitch, Senior Investigator and Sherman Family Research Chair in Genomic Medicine at the Samuel Lunenfeld Research Institute of Mount Sinai Hospital, Director of the Fred A. Litwin & Family Centre in Genetic Medicine and Director of Genomic Medicine at the University Health Network.

“We are accelerating our ability to diagnose disease, apply leading-edge technology to discovery of the disease-causing genes and translate our findings into improved, personalized treatment,” says Dr. Siminovitch. “These advances give us hope for improving outcomes for affected patients in the very near future.”

Dr. Siminovitch and colleagues have identified three genes in one pathway that are involved in susceptibility to primary biliary cirrhosis (PBC), an autoimmune disease that destroys the bile duct of the liver. The cause of this devastating disease has remained unknown; however, genetic factors may make a person prone to develop primary biliary cirrhosis.

There has only been one available treatment for this potentially fatal disease, and patients who do not respond to medical treatment may require liver transplantation.

PBC usually strikes women between the ages of 40 and 60 years, and affects about one in 1,000 women over 40. Patients with PBC often have other autoimmune diseases as well, suggesting that these diseases may be caused by some of the same genetic factors as PBC.

“We can now pinpoint any gene for any disease,” says Dr. Jim Woodgett, Director of Research, Samuel Lunenfeld Research Institute of Mount Sinai Hospital. “Dr. Siminovitch’s work is an excellent example of how genetic findings are making a difference in patients’ lives.”