Molecular genetics of intellectual disability

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Molecular genetics of intellectual disability


Applications are invited to be submitted to the Office of Research by 4pm on 31 May 2018

Synapses releasing the neurotransmitters GABA, glycine and glutamate play essential roles in health and disease, with defects resulting in diseases such as autism, idiopathic generalised epilepsies, intellectual disability and startle disease. With the advent of high-throughput exome and genome sequencing technologies, numerous rare sequence variants not present in the general population are being discovered. However, often there is very little in the way of functional validation to prove tthat these changes are pathogenic. This project will integrate new approaches for testing novel sequence variants found in genes encoding pre- and post-synaptic components of inhibitory and excitatory synapses (e.g. ligand-gated ion channels, neurotransmitter transporters, clustering proteins, GDP-GTP exchange factors) using bioinformatics, molecular biology and functional approaches. This project will focus on genetic defects identified inhibitory GABAergic / glycinergic synapses and excitatory glutamatergic synapses that cause intellectual disability. The student will have the unique opportunity to receive training in bioinformatics analysis, molecular biology (PCR, cloning, mutagenesis) and structure-function assays (encompassing biochemistry, cell culture, microscopy and yeast two-hybrid methods). The project will be based in a new state-of-the-art molecular biology laboratory in the Sunshine Coast Health Institute ( under the supervision of Professor Robert J Harvey, who has >150 research publications, including papers in Cell, Cell Reports, Nature Cell Biology, Nature Communications, Nature Genetics, Nature Neuroscience, Nature Reviews in Drug Discovery, Neuron and Science. 

To be eligible for this scholarship, applicants must:
  • Be a Domestic applicant
  • Have a Bachelors Degree with First Class Honours or equivalent previous study, relevant work experience, research publications, or other research experience
  • Maintain satisfactory progress
  • Not hold an equivalent qualification to the one currently being applied for
  • Not have previously held a Commonwealth-funded postgraduate research scholarship unless it was terminated within six months of the current scholarship’s payments commencing
  • Not be the recipient of an equivalent award, scholarship, or salary, providing a benefit greater than 75 percent of the RTP rate to undertake a HDR. Income unrelated to the course of study is not to be taken into account.
Selection criteria:
  • Academic qualifications
  • Alignment of the proposed research to one of USC’s areas of research concentration
  • Record of research publications
  • Professional research experience
  • Ideal candidates will have had previous practical experience in the areas of biochemistry, genetics, molecular biology
Eligible programs:
Doctoral Programs
Number available:
Stipend commensurate with the RTP rate (2018 rate - A$27,082)
For further information, please contact Prof Robert J Harvey,
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