Bedouin tribe reveals secrets to McGill's GA-JOE
Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare genetic disorder that is characterised by distinctive head and facial features, such as unusual eyelids, narrow and beaked noses, flat nasal bridges, jaw deformities, and a turned out lower lip. 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 analysing machine. The research effort was led by husband and wife team Dr Jacek Majewski and Dr Loydie A. Jerome-Majewska, both of McGill University's Department of Human Genetics and the Research Institute of the McGill University Health Centre. The team discovered that mutations in the gene SCARF2 are responsible for the condition, and published their findings online today in the American Journal of Human Genetics...