WATCH: MUHC researchers say they made a major breakthrough towards curing a rare and incurable degenerative illness. Global’s Billy Shields reports.
MONTREAL – A team from the McGill University Health Centre (MUHC) said it has made a breakthrough on treating a group of rare neurogenerative disorders that afflicts one in 7,000 children.
“We are finally starting to better understand this terrible disease.”
Get weekly health news
Bernard referred to leukodystrophies – genetic disorders that attack the part of the body that acts as the insulating rubber sheath surrounding neurons.
According to the MUHC, nearly 20 types of leukodystrophies have been identified, but about 40 per cent of the children with the disease remain undiagnosed.
Researchers discovered mutations called POLR1C that are present in a common form of the disease.
“We found that mutations on POLR1C caused a problem in the assembly…of an enzyme,” said Benoit Coulombe, the study’s co-author.
The findings were published in Nature Communications.
Comments