Gypsies reveals disease gene
By studying an isolated population of Eastern European Gypsies known as Bowlmakers the researchers discovered mutations within a gene which has never before been linked to this form of ataxia in humans. Image: BlackJack3D/iStockphoto A WA study of an isolated population of Eastern European Gypsies known as "Bowlmakers" has unlocked clues about a serious developmental disease - congenital cerebellar ataxia.Professor Luba Kalaydjieva and Dr Dimitar Azmanov, from The University of Western Australia, say the discovery of an important genetic mutation is likely to inspire other scientific work around the world.The result of their research for the UWA-affiliated Western Australian Institute for Medical Research (WAIMR) was published online in the prestigious American Journal of Human Genetics.It involved working collaboratively with other Australian and European researchers to discover mutations within a gene which has never before been linked to this form of heredity ataxia in humans.Ataxias are a large group of neurodegenerative disorders that...