From artificial blood to genome analysis, McGill researchers unlocking doors to the future

Welcome to Research Roundup, a new feature of the McGill Reporter that highlights the many and myriad research initiatives taking place all across the University.

Oct.1: Artificial blood

Dr. Thomas Chang of the Department of Physiology outlined his research into artificial blood products to “Chemistry World,” which is published by the Royal Society of Chemistry. The academic community is working on bettering the basic understanding of how blood works, to further improve the products. Although some products are available, obtaining regulatory approval for these products has proved difficult so far in Europe and the U.S. South Africa is one of the few countries to grant approval.

“No one was interested in this type of work until HIV came in the 1980s, and then everyone started to look into making artificial blood substitutes. We have to be ready for another HIV episode or similar when the blood might be contaminated,” Chang said.

Sept. 30: “RaDiCAL” approach to gene discovery

As part of McGill’s “RaDiCAL” project (Rare Disease Consortium for Autosomal Loci), collaborators in Qatar conducted field research with three patients from biologically interrelated Bedouin families, and sent samples to Canada for analysis by GA JOE – a high-tech genome analyzing machine – and discovered that mutations in the gene SCARF2 are responsible for Van Den Ende-Gupta syndrome (VDEGS), an extremely rare genetic disorder.

“One of my roles at McGill is to implement new genomic technologies in human genetics research. Essentially, with a new technique known as exome capture and sequencing, we can now quickly sequence all of the coding portions of the human genome,” explained Dr. Jacek Majewski, of the Department of Human Genetics. “This approach allows us to identify mutations responsible for rare genetic disorders. While they were too rare to attract much interest, these disorders hold in fact a lot of promise for the identification of the genes and pathways that are involved in generating human diversity. Moreover, knowing the mutations will be essential for future genetic testing and potential therapeutic intervention.”

Sept. 28: Changing mortality in Congenital Heart Disease

Dr. Ariane J. Marelli, of the MUHC’s McGill Adult Unit for Congenital Heart Disease (CHD), was the corresponding author for research that showed that the average age at death from CHD has been steadily rising. The proportion of infant and childhood deaths from CHD markedly declined from 1987 to 2005, with a reduction in mortality that exceeded that of the general population. Although mortality rates decreased in all age groups below 65 years, the largest reduction was in infants.