Lymphoedema: Adelaide Researchers Unlocking the Gene Puzzle - RAH Research Fund
Centre for Cancer Biology 20 August 2015

Lymphoedema: Adelaide Researchers Unlocking the Gene Puzzle

Affecting more than 140 million people worldwide, lymphoedema is an inherited condition but can also be caused by serious damage or injury to the lymphatic system.

Causing localised fluid retention and tissue swelling because the lymphatic system is too compromised to function normally, lymphoedema is a debilitating condition and one that is not well understood across the globe.

In a bid to try and understand the cause of inherited or primary lymphoedema, Adelaide researchers who are supported by the RAH Research Fund have made an exciting discovery finding a particular gene, GATA2, is crucial in the formation and maintenance of valves in the lymphatic system.

Dr Kelly Betterman and Ms Jan Kazenwadel, who work in Associate Professor Natasha Harvey’s team at the Centre for Cancer Biology (a partner of the RAH Research Fund), are thrilled to have been involved in a world-first discovery that has unlocked another piece of the lymphoedema gene puzzle.

“We’ve just had a paper that’s come out in the Journal of Clinical Investigation that has been able to share this breakthrough finding with the rest of the research community,” said Dr Betterman.

“There are already a number of genes that have been found that make up the lymphatic system, but we’ve now been able to add GATA2 to the list.”

“We’ve confirmed there are particular mutations in the gene which will lead to lymphoedema, based on the type of mutation.”

The research project came about after initial work collaborating with Professor Hamish Scott’s data from a worldwide screening of patients with lymphoedema and a predisposition to developing myelodysplastic syndrome and/or acute myeloid leukaemia.

After seeing how GATA2 had a very important role to play in lymphatic vessel development, the team wanted to explore this further, and about three years of research led to the current discovery.

Both researchers love working in an area that isbasic molecular biology combined with genetics and developmental biology, but with the opportunity to impact patients suffering from this condition.

“Working in the lab is like a form of cooking,” Ms Kazenwadel said.

“There are a lot of frustrations, but when something comes together and goes right, it’s the most exciting feeling.”

“It’s also so great to work in this area of research on something you feel has a possible application to help people in the future.”

“Our work is making a vital contribution to understanding how the lymphatic system works, and with more research we hope it can be used to develop better treatment options for patients suffering from lymphoedema,” she said.

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