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Perrault syndrome - a pleiotropic disorder of mitochondrial dysfunction

   Faculty of Biology, Medicine and Health

   Applications accepted all year round  Self-Funded PhD Students Only

Manchester United Kingdom Biochemistry Cell Biology Genetics Molecular Biology Medicine

About the Project

Perrault syndrome is a rare clinically and genetically heterogeneous autosomal recessive condition. Affected individuals have severe to profound sensorineural hearing loss. This hearing loss can be present at birth or be progressive through childhood. Affected women also have ovarian insufficiency resulting in infertility. Some individuals can be affected by leukoencephalopathy, peripheral neuropathy and intellectual disability.
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 ( 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

Funding Notes

Applications are invited from self-funded students. This project has a Band 2 fee. Details of our different fee bands can be found on our website (View Website). For information on how to apply for this project, please visit the Faculty of Biology, Medicine and Health Doctoral Academy website (View Website).

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


Newman WG, Friedman TB, Conway GS, Demain LAM. Perrault Syndrome. 2014 Sep 25 [updated 2018 Sep 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews. Seattle
(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

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