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£2million dwarfism study launched

An international team of researchers have been awarded more than £2million to study the genetic causes of dwarfism in a bid to develop future treatments.

Ten European and one Australian partner organisations, led by Dr Mike Briggs from The University of Manchester, will investigate some of the most common bone disorders that lead to short stature.

Earlier research by the various groups had identified the genetic mutations that cause some of the conditions associated with dwarfism. The collaborators now intend to use this unprecedented experimental resource in the form of 10 genetic disease models to take their work to the next stage of development.

“There are more than 200 unique and well-characterised types of bone disorder, ranging in severity from relatively mild to severe and lethal forms,” said Dr Briggs, who is based in Manchester’s Faculty of Life Sciences.

“Although individually rare, as a group of diseases they have a combined incidence of more than one in 4,000.

“This is an exciting project that brings together an international group of experts to hopefully rapidly advance our knowledge of the genetic causes of dwarfism.

“By the end of this research we hope to have identified the major molecular problems that cause these disorders and to be much closer to identifying potential therapeutic targets.”

The research project – called EuroGrow – is funded by a European Union grant of €3.14m plus €500K from the Australian Medical Research Council.

Investigations will concentrate on the most common causes of dwarfism, including achondroplasia, which affects as many as one in every 10,000 children.

Other disorders to be targeted include pseudoachondroplasia and spondyloepiphyseal dysplasia congenita, which both manifest with severe arthritis in adulthood.

“In the shorter term our research will help in the better diagnosis and prognosis of these disorders,” said Dr Briggs. “However, our long-term goal will be to find treatments for these disorders.

“In terms of progress towards this longer-term objective, it is unlikely we will be able to help this generation but we are confident such therapies will be available to the next generation. Certainly, the genetic models we now have will prove extremely useful in helping us to achieve this goal.”

Aeron Haworth | alfa
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