Research Fellow

UE07: £36,333.00 - £43,155.00 Per Annum

CMVM / MRC Human Genetics Unit / Institute for Genetics and Cancer

Fixed Term Contract: Full Time - 35 Hours per Week

Fixed Term Contract Duration: 3 Years

We have an MRC-funded postdoctoral position available in Professor Pleasantine Mill’s lab at the MRC Human Genetics Unit at the University of Edinburgh, as part of the Congenital Anomalies Cluster for the MRC National Mouse Genetics Network (NMGN). The candidate will be part of a cohort of 5 postdocs from Newcastle, KCL, UCL, and Oxford universities working towards developing new mouse models of human disease and technologies to help us understand how changes in our genomes, also called variants, can cause the severe anatomical malformations found in approximately 1 in 20 births. Each year this equates to 8 million affected newborns, of which 300,000 die within the first four weeks of life. With recent advances in sequencing technology, we are accelerating the identification of possible disease-causing changes in the genetic code of these patients. However, it is a major challenge to prove which of these variants do cause these malformations, as well as to establish the cellular mechanisms by which these changes disrupt normal development.

Our cluster’s goal is to generate precisely engineered mouse models of patient variants, which will help us to replicate complex interactions disrupted during early life, across multiple organ systems such as the ciliopathies. We aim to improve monitoring of early life in our animal models, which will help us to better understand the consequences of these genetic changes across the critical neonatal period. Our novel mouse models will also allow us to monitor disease progression later in life and will serve as platforms for developing much needed therapeutic interventions with academic and industry partners.

The Opportunity:

We are looking for a talented, curious and collaborative colleague who is excited about using cutting-edge technologies to join our team to develop pre-clinical models of human ciliopathies. Their project will investigate molecular mechanisms underlying disease progression, deep phenotyping across neonatal periods and establish key molecular and cellular phenotypes of disease. The post will work towards understanding reversibility of these ciliopathic disease phenotypes in different tissue settings in our pre-clinical mouse models. The post will involve liaising within the Mill team at the HGU, as well as nationally with partners across the UK, at the Mary Lyon Centre (Harwell) and Nucleic Acid Therapy Accelerator (NATA: Harwell).

The Mill lab fosters a highly interdisciplinary approach centred on classical cell and developmental biology with modern genomics, spatial OMICs and advanced imaging. We specialize in the development of human disease models for the ciliopathies (see: PMID: 29916806 , PMID: 36712068 , https://doi.org/10.1101/2022.10.19.22280748 ) which provide insight into key molecular players and processes they control. We have been developing genome surgery approaches to look at reversing disease phenotypes ( https://www.biorxiv.org/content/10.1101/2020.07.14.200170v1.full , PMID: 35074757 ), in parallel with other approaches including gene augmentation and more. This project will look at developing humanized disease models for syndromic ciliopathies to understand disease mechanisms, and to provide valuable pre-clinical models to develop much needed therapeutic strategies for with our academic and industry partners.

This project is part of a team effort to understand the ‘molecular principles’ of mammalian cilia diversity and their tissue-specific sensitivity to disease causing mutations. Our lab thrives on curiosity, creativity and collaborations. Our collaborations- nationally and internationally- enable us to drive ground-breaking work spanning multiple fields and disciplines, which is also why we strongly encourage candidates from diverse backgrounds to apply.

More information on the Mill lab and our team can be found here: https://www.cilialab.co.uk/

More information on the Congenital Anomalies cluster and the NMGN project can be found here: https://nmgn.mrc.ukri.org/clusters/congenital-anomalies/

Your skills and attributes for success:

• A PhD or equivalent degree (MD/PHD etc) in Genetics, Molecular Biology, Genomics, Biology or related fields.
• Strong communication skills.
• Expertise in genomics, bioinformatics (especially proteomics, RNAseq analysis), developmental biology, and/or cell biology is preferred, but not necessary.
• Experience with model organisms is preferred.
• Experience in advanced imaging and image analysis is preferred.

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As a valued member of our team you can expect:

An exciting, positive, creative, challenging and rewarding place to work. We give you support, nurture your talent and reward success. You will benefit from a competitive reward package and a wide range of staff benefits, which includes a generous holiday entitlement, a defined benefits pension scheme , staff discounts, family friendly initiatives , flexible working and much more. Access our staff benefits page for further information and use our reward calculator to find out the total value of pay and benefits provided.

The University of Edinburgh holds a Silver Athena SWAN award in recognition of our commitment to advance gender equality in higher education. We are members of the Race Equality Charter and we are also Stonewall Scotland Diversity Champions, actively promoting LGBT equality.

If invited for interview you will be required to evidence your right to work in the UK. Further information is available on our right to work webpages.

The University is able to sponsor the employment of international workers in this role. If successful, an international applicant requiring sponsorship to work in the UK will need to satisfy the UK Home Office’s English Language requirements and apply for and secure a Skilled Worker Visa.

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