Postdoctoral Research Fellow

The post

The University of Exeter Medical School wishes to recruit a Postdoctoral Research Fellow to participate in an exciting new collaborative translational genomics initiative (PARADIGM). This 5-year Wellcome-funded post is available from 1 March 2023. The successful applicant will work on gene expression in fetal brains using long-read sequencing technologies, and investigate the importance of novel RNA isoforms to severe monogenic developmental disorders. The individual will be a member of several research teams at the University of Exeter (led by Professors Caroline Wright and Jon Mill) as well as being part of a wider collaborative network of genomics researchers across the UK.

About the project

Despite progress in genome sequencing, the majority of patients affected by rare diseases remain undiagnosed. The PARADIGM initiative will tackle this problem by creating new Primary Annotated Resources to Advance Discovery In Genomic Medicine. PARADIGM is a collaboration between researchers at the Universities of Exeter, Edinburgh, Imperial, and Cambridge as well as the European Bioinformatics Institute (EMBL-EBI) and Wellcome Sanger Institute. By combining machine learning approaches with high-resolution functional data and genome sequences from patients (including the Deciphering Developmental Disorders Study and 100,000 genomes project), we aim to find novel genetic causes of monogenic disease. This post forms a core part of PARADIGM, and will include:

• Analysis of existing genome-wide functional data from fetal and adult brain samples, including gene expression and DNA methylation data, to find neuroactive regions (https://pubmed.ncbi.nlm.nih.gov/25650246/).
• Selection of genes for targeted deep long-read RNA sequencing in fetal brain, adult brain and adult heart samples, to investigate rare novel isoforms (https://pubmed.ncbi.nlm.nih.gov/34788620/).
• Interrogation of rare genetic variants in tissue-specific isoforms, to discover new disease-causing loci in patients with rare developmental disorders (https://pubmed.ncbi.nlm.nih.gov/33057194/ and https://www.medrxiv.org/content/10.1101/2022.07.25.22278008v1).

About you

Applicants will possess a relevant PhD or equivalent qualification/experience in a related field of study. The successful applicant will be able to develop research objectives, analyse large datasets, draft research manuscripts, make presentations at conferences, and contribute to the process of securing funding. Experience analysing large genomic datasets and an understanding of genomic medicine is desirable. The successful applicant will be able to work collaboratively and willing to help supervise others.

Please ensure you read the Job Description and Person Specification for full details of this role by clicking on the attachment.

What the University of Exeter can offer you

Exeter is a member of the prestigious Russell Group of research-intensive universities and in the top 150 universities in the world (Times Higher Education World University Rankings 2022 and QS World University Ranking 2022). We combine world-class teaching with world-class research, with over 27,000 students and 6,400 staff from 180 different countries. We are committed to an inclusive culture where all members of our community are supported to thrive. We offer:

• Freedom (and the support) to pursue your intellectual interests and to work creatively across disciplines to produce internationally exciting research.
• Generous holiday allowances, flexible working, pension scheme and relocation package (if applicable).
• A multitude of staff benefits including sector leading benefits around maternity, adoption and shared parental leave
• A beautiful campus set in the heart of stunning Devon.

For further information please contact Caroline Wright (caroline.wright@exeter.ac.uk).

The closing date for completed applications is 09/02/2023. Interviews are expected to take place around early March.

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