Saturday, March 1, 2008

Mutation of gene TMEM43

Thursday brought news from my friend Lorraine , in Grand Falls-Windsor, of a genetic breakthrough at Memorial University of Newfoundland (MUN) in St. John's.
Dr. Terry-Lynn Young, Kathy Hodgkinson and their team (Discipline of Genetics in the Faculty of Medicine) at MUN have been successful in isolating a mutation in gene TMEM43 in a number of Newfoundland families. As a result of their work, a gene test can now tell people with certainty if they are indeed at risk of sudden cardiac death. Please read more at: Newfoundland's sudden death riddle solved

A friend from my street, and my high school, was one of the young lives taken by this defect. Stew King was an athletic, charming, funny person and was only in his twenties when he left us.

The news of this discovery is bittersweet. Hats off to all those who made it possible.


  1. This comment has been removed by a blog administrator.

  2. Elaine,

    I'm a masters student in Dr. Youngs lab in St. John's, Newfoundland. I just read the email that you had sent to Dr. Young (hope you don't mind she has forwarded it to us).

    Your story is truly touching, and makes me even more proud to be part of this lab, and part of a solution to such devastating diseases. While i had nothing to do with the actual project, hearing stories like yours renews my love for genetics, and research. Knowing that we touch the lives of so many makes it
    worth doing :)

    So thank you!

    I actually wrote an article on my blog about it as well. Feel free to check it out: