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The superheroes of medicine

Medical Science: Dieter Ludecke, Patricia Crock and Sonir Antonini at City Hall for a conference on paediatrics. Picture: Jonathan Carroll Brilliant minds came together in Newcastle over the past four days to tackle rare and life-threatening medical conditionsin children, as the genetics revolution advances.
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The conference, heldat City Hall,drew specialists from the US, UK and Brazil, along with Australia and New Zealand.

Associate Professor Patricia Crock, who chaired the event’s organising committee, said the attendees were essentially “sub-specialists” inpaediatric medicine.

“Withrare diseases, it’s criticalto have aninternational approach,” said Professor Crock, who heads the department of paediatric endocrinology and diabetes at John Hunter Children’s Hospital.

Among the speakers wasProfessor Sonir Antonini, of theUniversity of Sao Paulo in Brazil. Professor Antonini shared his knowledge ofadrenal-gland cancers in children.

“In the south and south-east regionsof Brazil, we have a15 to 18 times higher incidence of this disease.”

A genetic mutation has been pinpointed as a key cause of the disease.

However,only 5 per cent of children born with this mutation will develop a cancerous tumour in their adrenal gland.

“We want to understand why 5 per cent develop the tumour and the other 95 per cent do not,”he said.

A key part of his speech in Newcastle was highlighting the importance of early diagnosis to allow surgery to cure the disease.

Professor Crock said her Brazilian colleague had looked after almost 100 childrenwith the disease. In Newcastle, only two cases of the condition had occurredin 25 years.

“Each child you see with a rare condition, you learn a lot about. It’s all about collaboration and networking and getting the best for patients,” she said.

“When you have lots of brilliant minds together, you advance much more than if everybodystays in the lab and doesn’ttalk to anybody else.”

Another speaker at the conference was geneticist Matt Edwards, of Hunter Genetics and the School of Medicine atUniversity of Western Sydney. Some of his work relates to the formation of large heads in children with autism and links between small heads andschizophrenia.

“If you know the genes that cause these conditions, there’s a chance we can correct the effects of those genes at some time in the future,”Dr Edwards said.

“The hope is that thesetypes of mental disorders may well become treatable with further research. Researchersat Hunter Genetics and its associatedGOLD service have found twoof the genetic causes of large heads, tall stature and intellectual disabiilty/autism.”

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