- Melbourne researchers say they have identified the genetic causes of the most common types of epilepsy, bringing them one step closer to finding a cure for the condition.
- Garvan bioinformatics expert, Kenny Sabir, has won the University of Sydney Three Minute Thesis (3MT) competition. The 3MT is a skills development activity that challenges PhD students to explain their research project to a non-specialist audience in just three minutes.
- The AMA is calling on all Australian governments to collaborate on the creation of Regional Training Networks to maximise resources and expertise to produce a high level medical workforce in sufficient numbers to meet the future health needs of rural and regional Australian communities.
News on Health Professional Radio. Today is the 4th September 2014. Read by Rebecca Foster.
Melbourne researchers say they have identified the genetic causes of the most common types of epilepsy, bringing them one step closer to finding a cure for the condition.
Epilepsy is a neurological condition that causes recurrent seizures and affects about two percent of people in Australia.
A total of 8,000 people in Australia, Asia, North America and Europe were screened using new technology to provide them with a large enough sample to identify the two recurring genes.
The head of medicine at the Royal Melbourne Hospital and the University of Melbourne, Professor Terry O’Brien, was involved in the Australian arm of the study.
He told AM the study was a significant breakthrough for genetic generalised epilepsies.
“What we discovered is that there are two genes that seem to be particularly important in determining this form of epilepsy,” Professor O’Brien said.
“One is probably not all that surprising. It’s in a gene that is called an ion channel, one of the proteins that triggers nerve cells to fire.
“But the other is in a gene that’s called protocadherin, which is involved with how nerve cells connect up together, which is something that has not been previously thought to be involved in this form of epilepsy.
“[It] indicates a whole new mechanism by which these epilepsies may occur, and potentially and avenue by which new treatments can be directed.”
He said epilepsy often runs through families.
“It’s what’s called complex genetics, so a single gene by itself doesn’t determine the epilepsy, but rather combinations of genes that come together in that individual that are carried in families.
“And because its complex, you need a lot of power to identify the different components.”
Professor O’Brien said current treatments only suppress epileptic seizures, but this discovery could allow them to pinpoint the mechanism that fundamentally causes them.
Garvan bioinformatics expert, Kenny Sabir, has won the University of Sydney Three Minute Thesis (3MT) competition, so will now be competing at the Australian championships in Perth on 3 November. The 3MT is a skills development activity that challenges PhD students to explain their research project to a non-specialist audience in just three minutes. The event is run in stages, first within faculties, and then within universities. University winners progress towards the Trans-Tasman finals. Kenny is doing his part-time PhD in the Faculty of Engineering and Information Technologies at the University of Sydney, studying the 3D structures of chromosomes. First he is visualising how they cluster with each other, and then he will analyse those clusters by using Big Data computation techniques. Visualization is a tool that allows people to tap into their own brains – the best computers in the world.
…His 3MT talk discussed how 3D structures directly influence the expression of genes, and the ways in which different parts of the genome interact with one another. Kenny has worked in Garvan’s Biodata Visualisation group for around two years. As its name suggests, the group develops tools that help life scientists use data to visualise underlying biological and biomedical processes.
The AMA is calling on all Australian governments to collaborate on the creation of Regional Training Networks to maximise resources and expertise to produce a high level medical workforce in sufficient numbers to meet the future health needs of rural and regional Australian communities.
The AMA plan is detailed in the AMA Position Statement on Regional Training Networks, released today.
AMA President, A/Prof Owler, said that medical workforce shortage is a major health issue, particularly for rural and regional Australia.
“The AMA is promoting the establishment of regional training networks (RTNs) to bolster rural training opportunities, and to provide a valuable and meaningful career pathway for junior doctors who want to work in regional and rural Australia.
An example of a Regional Training Network is the South West Victorian Regional Hub, which was established by the Royal Australasian College of Surgeons (RACS) for general surgery.
Using the principle that people trained in regional areas are more likely to remain or return to regional areas, the Hub involves four regional hospitals – Geelong, Ballarat, Warrnambool, and Hamilton.
Metropolitan partnerships have been developed with St Vincent’s Hospital and the Alfred Hospital to provide further specialised rotations.
The AMA Position Statement on Regional Training Networks is at https://ama.com.au/position-statement/regional-training-networks-2014
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