Mother with rare condition leads drive for better diagnosis of genetic diseases


by LAUREN CODLING A MOTHER suffering from a rare genetic disease is supporting a campaign which hopes to collect data in order to develop tests for populations at high risk of genetic birth defects. Neena Nizar, 40, suffers from a condition called Jansen’s Metaphyseal Chondrodysplasia. It is an extremely rare skeletal progressive disease which stops the body’s ability to make calcium. It affects portions of the long bones in the body, usually the arms and legs, which develop abnormally with unusual cartilage formations and subsequent abnormal bone formation. As a result, affected individuals exhibit unusually short arms and legs and…

You do not have access to this content. You need to subscribe.