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Epilepsy, Epigenes and Molecular Filters Earn PM’s Prizes

Prof Sam Berkovic and Prof Ingrid Scheffer of The University of Melbourne have been awarded the 2014 Prime Minister’s Prize for Science for research that identified the first epilepsy gene and more than half of the genes currently known. The pair discovered that a particularly severe form of epilepsy was caused by a gene mutation rather than vaccination, thus dispelling significant concerns about immunisation.

Their work has opened the way to better targeted research, diagnosis, management and treatment for many forms of epilepsy, showing that genes can lead to seizures in different ways in different forms of epilepsy. An important cause, for instance, is interference with the movement of nutrients across nerve cell membranes. In one of these cases, treatment using a diet that avoids glucose is effective.

Prof Ryan Lister of The University of Western Australia was awarded the Frank Fenner Prize for Life Scientist of the Year for creating ways to map millions of molecular markers that reveal where genes have been switched on or off. He has mapped these markers in plants and humans, and revealed key differences in cells with different fates. These “epigenome” maps could enable plant breeders to modify crops to increase yields without changing their underlying DNA.

Lister has also shown that when human skins cells are stimulated to become stem cells, their epigenome retains the memory of their origin as skin, and thus these cells are different to natural embryonic stem cells. He believes, however, that this molecular memory can be reversed.

Dr Matthew Hill of CSIRO was awarded the Malcolm McIntosh Prize for Physical Scientist of the Year for mapping the space inside metal–organic frameworks (MOFs) – the world’s most porous materials. Hill has demonstrated their use as an efficient and long-lasting filter to separate contaminants from natural gas, and to store hydrogen, carbon dioxide and other gases safely. Further applications could include MOF crystals that deliver drugs or fertilisers on demand.