Rare genetic conditions on the rise

More conditions are being recognised


by Danny Rose, Medical Writer

Sydney Morning Herald

February 27, 2009


The number of people living with identified rare genetic diseases is on the rise in Australia, because more conditions are being recognised.

It is thought that up to 1.5 million Australians are now living with unique, rare and often recently identified genetic conditions, which go largely under the radar.

"It isn’t so much that the number of people affected are going up it’s more that the number of diseases that we recognise is increasing," says University of Melbourne Professor of Medical Genetics Bob Williamson.

"There are now seven or eight thousand different genetic diseases known to occur, although many of them only affect a handful of children."

One such condition is Ciliary dyskinesis, a genetic disorder which affects the operation of millions of tiny hairs (cilia) in the lungs.

Prof Williamson says sufferers used to be incorrectly diagnosed as having Cystic fibrosis, meaning they received sub-optimal treatment.

"There are only about five children affected in the whole of Australia," he says of the condition.

These rare conditions, caused by genetic mutations, are becoming more readily identified through advances in DNA technology and the mapping of the human genome.

But the lack of a large number of people with any one condition means they don’t attract priority status by government, and they are also a less lucrative research prospect for pharmaceutical companies.

Generally, rare conditions don’t have a cure and treatment options are more expensive.

It is estimated that about 35 per cent of all child deaths before the age of one can be linked to a rare disease.

"Everyone understands that government’s efforts will go into major public health problems but that is not any use to a child who suffers from a rare disease," says Prof Williamson, who is also a board member of the Smile Foundation.

International Rare Disease Day is to be marked for the first time in Australia on Saturday, February 28.

The Smile Foundation acts as a charitable body which funds research and is a collective support organisation for those with rare conditions.

© 2009 AAP