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.
'Why is this interesting? One of my roles at McGill is to
implement new genomi