Rare genetic diseases causing concern

Melbourne, February 27: A latest report has discovered increasing occurrence of rare genetic diseases in Australia, most of which have been recently identified.

The rise attributes to ever-increasing new conditions that are coming into light through advanced DNA technology.

The report was prepared by The Smile Foundation, which funds research on rare conditions.

About 1.5 million Australians, most unknowingly, are suffering from unique diseases arising because of identified rare genetic conditions.

“It isn't so much that the number of people affected are going up it's more that the number of diseases that we recognize is increasing,” says Bob Williamson, Professor of Medical Genetics at University of Melbourne.

So far, about 8000 rare genetic diseases have been identified most of which affect only a few children. Since the conditions are rare and less explored, sufferers often go misdiagnosed.

Prof Williamson cites the example of Ciliary dyskinesis, which is one such condition that affects the operation of millions of tiny hairs (cilia) in the lungs.

“There are only about five children affected in the whole of Australia” from Ciliary dyskinesis, he said.

The diseases caused due to rare genetic mutations command less concern from government and health authorities, as not many people are affected from these conditions.

However, experts warn that 35 percent of all child deaths before age 1 could be linked to rare genetic conditions. This should be enough to call for research.

“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.

To spread awareness about ever-increasing rare conditions, Feb. 28 will be observed as International Rare Disease Day.