Research Associate in Clinical Variant - South Kensington, United Kingdom - Imperial College London

Imperial College London

Verified Company

South Kensington, United Kingdom

1 week ago

Posted by:

Tom O´Connor

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Description

The Imperial jobs site will be temporarily unavailable from 16.00pm Friday 23rd February to 12.00pm Wednesday 28th February as we move to a new Job site platform.

Applications started, not yet submitted by 16:00 23rd February will need to be started again on the new platform.

We are seeking highly motivated and skilled Research Associate to join our dynamic team working on a cross-disciplinary functional genomics project in collaboration with Imperial College, Queen Mary University of London (QMUL), and EMBL-European Bioinformatics Institute (EBI).

Our collaborative human functional genomics cluster aims to advance our understanding of the genetic basis of rare diseases and end the diagnostic odyssey for individuals suffering from these diseases.

Project Overview

Rare diseases affect approximately 6-8% of the population in Western societies, and advances in genomics have revealed the complex relationship between genetic variation and disease susceptibility.

The project focuses on missense variants, particularly those impacting post-translational modification (PTM) sites on proteins, to bridge the knowledge gap between genomic associations and disease mechanisms.

Our vision is to mechanistically define the functional impact of PTM variants within the rare disease cohort of Genomics England's genome resource, leading to personalized interventions and optimized clinical outcomes.

This exciting research project will integrate cutting-edge experimental capabilities across DNA synthesis, DNA assembly, automated molecular biology workflows and cell culture, next generation sequencing, state-of-the-art imaging and mass spectrometry platforms at the Child lab, London Biofoundry and Agilent Measurement Suite.

Duties and responsibilities:

Based at Imperial College's South Kensington Campus, you will work within Dr

Child's team and will:

Conduct targeted engineering of the human proteome a range of diseaserelevant cell lines and models to interpret variant function in live cells at scale.
Implement and optimize automated workflows for the creation of transgenic cell lines.
Perform orthogonal validation experiments addressing the impact of PTM variants on protein function.
Collaborate with the Biofoundry team to integrate experimental workflows and tools.

Essential requirements:

Hold, or be near completion of, a Ph.

D. in Clinical Genetics, Functional Clinical Genomics or a related discipline.

Expertise in targeted genome engineering.
Experience of clinical variant annotation in relation to clinical guidelines.
Technical skills relating to cellular phenotyping of rare disease models.
Advanced computational genomic analysis skills are advantageous.
Excellent written and verbal communication skills.
Ability to work collaboratively in a multidisciplinary research environment.
Track record of scientific publications in peerreviewed journals.
Proven ability to independently drive research projects.
Retain strong focus on interoperability throughout to ensure data outputs readily translate between the learning, prediction and analysis platforms that contribute to the broader cluster.

Further information:

This is a full time, fixed term position for two years with possibility of extension. You will be based at south Kensington Campus, with travel to White City Campus as required.

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