How mutant mice and McGill research saved a little girl’s life

Wednesday, May 11th, 2011

Fresh off a study on immunodeficiency and protein mutations in mice, Dr. Phillippe Gros of McGill’s Biochemistry department took a phone call from more than 5,000km away that got his attention and kept it.

On the line was a doctor in Newcastle, U.K., whose three-month-old immunodeficient patient had symptoms that mimicked those in Dr. Gros’s mice. The girl’s symptoms were so similar to the ones Gros found in mice that he set his team to work to understand what was making her sick. As it turned out, a single mutated protein was at the root of her illness, and a stem cell transplant was all it took to cure a little girl who seemed destined not to reach her first birthday.

To find out more, read McGill’s press release or check out the article published by Dr. Gros’s team in the New England Journal of Medicine .

Comments are closed.