Nov 03, 2015
By Jane Brown
Two decades after a rare congenital disorder was first discovered, researchers at Toronto’s Hospital for Sick Children say they’ve discovered the genetic cause of Roifman Syndrome.
It’s usually diagnosed in children between 3 and 5 years of age and is associated with immune deficiency, abnormal growth of bones and joints, vision problems and cognitive delay.
Dr. Chaim Roifman first discoved the condition twenty years ago. He and other researchers at Sick Kids have been able to pin point the gene responsible for the syndrome.
“For us, it opens up the door for identifying cures. Cures for this particular syndrome, but also for many other diseases that are controlled by this gene. This is very exciting actually,” Dr. Chaim explained to CTV News.
The gene controls more than 800 other genes, which the researchers say, explains why Roifman Syndrome affects so many parts of the body.
For more on the story, see the Sick Kids news release.