Snabbfakta
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- Manchester
Ansök senast: 2024-12-09
Research Associate in Genetics
The schwannomatoses are rare tumour syndromes that predispose affected individuals to the development of multiple nerve sheath tumours. Germline pathogenic variants in NF2, LZTR1 and SMARCB1 are the major known contributors. Different types of germline variant in LZTR1 and SMARCB1 have been associated with more than one rare condition, including conditions that do not include a tumour phenotype. For example, truncating germline variants in SMARCB1 generally predispose to the aggressive childhood rhadoid tumour predisposition syndrome, RTPS1, while hypomorphic variants are more likely to predispose to Schwannomatosis. Some hypomorphic variants have also been associated with the developmental disorder, Coffin-Siris syndrome, which is not known to increase the risk of developing tumours.
The project aims to analyse disease-specific variants that cause schwannomatosis, compared to variants in the same gene that cause other rare conditions to identify novel mechanisms of action that result in disease-specific phenotypes. The overarching aim is to improve the accuracy of variant classification, genetic diagnosis, genetic risk assessment, and clinical management of affected individuals.
The successful candidate will be responsible for creating genome edited cell models of variants of interest and assessing their effects on gene expression and function, using a range of techniques including RNA sequencing and methylation analysis.
As an equal opportunities employer we welcome applicants from all sections of the community regardless of age, sex, gender (or gender identity), ethnicity, disability, sexual orientation and transgender status. All appointments are made on merit.
Our University is positive about flexible working you can find out more here
Blended working arrangements may be considered
Please note that we are unable to respond to enquiries, accept CVs or applications from Recruitment Agencies.
Enquiries about the vacancy, shortlisting and interviews:
Name: Dr Miriam Smith.
Email: miriam.smith@manchester.ac.uk
General enquiries:
Email: People.Recruitment@manchester.ac.uk
Technical support:
Jobtrain: 0161 850 2004 https://jobseekersupport.jobtrain.co.uk/support/home
This vacancy will close for applications at midnight on the closing date.
Please see the link below for the Further Particulars document which contains the person specification criteria.
