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Gypsies are helping medical researchers to pinpoint the cause of a disease that can blind babies and young children.

Congenital glaucoma is a rare subtype of the eye disease, in which children are born with a raised intraocular pressure that causes glaucoma. If it is diagnosed early, it can be rectified. Otherwise, babies can go blind within months.

An international collaboration which includes the Lions Eye Institute Professor of Ophthalmology, David Mackey, and the WA Institute of Medical Research's Professor Luba Kalaydjieva, has discovered a new gene associated with congenital glaucoma.

Professor Kalaydjieva has an international reputation for her genetics research into the European gypsy, or Roma, populations. And Professor Mackey is renowned for his work on the genetics of glaucoma.

They started work together last year with their research partners.

"The group had already identified one gene, that was found in about 20 per cent of Australian children with congenital glaucoma," Professor Mackey said. "A second gene was identified in families from Pakistan and India, but we couldn't find it in European Australians.

"Then Professor Kalaydjieva joined us and we found the gene in gypsy families."

Congenital glaucoma is common in the Roma population, with up to one in every 2,000 children being affected, compared with the general Australia population of one in 30,000.

Professor Kalaydjieva explained that gypsies are a founder population, derived from a small number of ancestors. They intermarry and remain relatively isolated from surrounding populations.

"The resulting limited genetic diversity makes it easier to find the genes responsible for all sorts of diseases," she said. "It is easier than using a heterogeneous population."

There are between eight and 10 million European gypsies but probably only 200,000 Roma people in Australia, although there is no accurate census data.

Professor Kalaydjieva is originally from Bulgaria and started her genetic research with Roma people nearly 20 years ago. She found that they had some diseases that were unique to them (such as the high incidence of congenital glaucoma), while they often did not suffer diseases found in the wider population.

"We must be careful, with out research, not to increase the stigmas already suffered by the Roma people but, at the same time, it is good news for them that we can work out how their problems are caused and help them to minimalise them with genetic screening," she said.

Published in UWA News , 6 September 2010