Discovering the genetic origin of craniofacial defects
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Dr Seb Dworkin on his scientific ‘fishing
expedition’ with zebrafish embryos,
teasing out the genetic origin of cranio- facial defects |
One in 25 children is born with some form of prenatal defect. Three quarters of those affected have a craniofacial defect, caused by poor bone formation in the face and skull. That is, 0.1-0.3% of all babies born present with a facial defect, which can vary from almost undetectable to such problems as a cleft palate or serious disfigurement. Surgery not being an option for all, the alternative is to prevent the defect from occurring in the first place. The problem stems from an error in the genetic instructions for the facial formation. But which genes? Which sequences? What affects the genes? Without knowing exactly which genes are involved in the process of embryo formation, it will not be possible to develop preventive gene therapies.
Fellowship to study medication for helping blood clotting in trauma patients
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| Tranexamic acid, a medi- cation to help clotting in trauma patients |
In 2013 Professor Russell Gruen, Director of the National Trauma Research Institute, was awarded the prestigious John Mitchell Crouch Fellowship, the highest award for academic excellence from the Royal Australasian College of Surgeons. The funds from this award will be used by Professor Gruen and his team to further their research on coagulopathy in surgery and trauma. There are two main focuses to this work. First is understanding and addressing acute traumatic coagulopathy in severely injured patients in association with the PATCH-Trauma Study of prehospital tranexamic acid that is soon to commence.
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