Art and Science of Laboratory Medicine

Art and Science of Laboratory Medicine

Wednesday, May 14, 2014

Identification of genetic mutations involved in human blood diseases

A study published today in Nature Genetics has revealed mutations that could have a major impact on the future diagnosis and treatment of many human diseases. Through an international collaboration, researchers at the Montreal Heart Institute (MHI) were able to identify a dozen mutations in the human genome that are involved in significant changes in complete blood counts and that explain the onset of sometimes severe biological disorders.

“Complete blood counts are a complex human trait, as the number of cells in the blood is controlled by our environment and the combined expression of many genes in our DNA,” explained Dr. Guillaume Lettre, a study co-author, an MHI researcher, and an Associate Professor at the Faculty of Medicine at Université de Montréal.

Read more:
Identification of genetic mutations involved in human blood diseases


Source: Montreal Heart Institute

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