About the Project
Over the past ten years our research group and others have identified seven different genes that, when altered, can result in Perrault syndrome. These genes are linked to each other in that they lead to mitochondrial dysfunction. Recent work in our team has identified variants in five additional genes, not previously linked to Perrault syndrome that that we believe cause this condition through mitochondrial dysfunction.
The student will
1. use assays in yeast and patient cells to determine the function of the novel Perrault syndrome genes.
2. use genome and RNA sequencing to identify new genes that cause Perrault syndrome.
3. develop an aminoacylation assay to interpret the pathogenicity of variants causing Perrault syndrome.
4. Develop strategies to understand common pathways leading to Perrault syndrome that will inform therapeutic approaches.
This work will majorly advance our understanding of this complex hearing loss disorder and provide the student with excellent foundations for a career in molecular genomic research.
Candidates are expected to hold (or be about to obtain) a minimum upper second class honours degree (or equivalent) in Genetics, biochemistry or Molecular Biology. Candidates with experience in next generation sequence analysis are encouraged to apply.
For information on how to apply for this project, please visit the Faculty of Biology, Medicine and Health Doctoral Academy website (https://www.bmh.manchester.ac.uk/study/research/apply/). Informal enquiries may be made directly to the primary supervisor. On the online application form select PhD Genetics.
For international students we also offer a unique 4 year PhD programme that gives you the opportunity to undertake an accredited Teaching Certificate whilst carrying out an independent research project across a range of biological, medical and health sciences. For more information please visit http://www.internationalphd.manchester.ac.uk
As an equal opportunities institution we welcome applicants from all sections of the community regardless of gender, ethnicity, disability, sexual orientation and transgender status. All appointments are made on merit
(WA): University of Washington, Seattle; 1993–2020.
Hochberg I, Demain LAM, Urquhart JE, Amberger A, Deutschmann AJ, Demetz S, Thompson K, O’Sullivan J, Belyantseva IA, Barzik M, Williams SG, Bhaskar SS, Jenkinson EM, AlSheqaih N, Blumenfeld Z, Yalonetsky S, Oerum S, Walter Rossmanith, Yue WW, Zschocke
J, Taylor RW, Friedman TB, Munro KJ, O’Keefe RT, Newman WG. A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency. bioRxiv https://doi.org/10.1101/168252
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