Research Associate in Clinical Variant Interpretation

4 weeks ago

United Kingdom BBSTEM Ltd. Full time

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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 .

This position will be funded as part of an MRC Human Functional Genomics cluster led by Dr Matthew Child. Successful candidates will be part of a talented multidisciplinary team of researchers based at Imperial College London, Queen Mary University of London (QMUL), and EMBL-European Bioinformatics Institute (EBI), fostering an environment of collaboration and scientific excellence. This will also provide extensive opportunities for collaboration and networking with the other three MRC-funded Human Functional Genomics clusters, and individual leadership development.

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 disease-relevant 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.
  • Hold, or be near completion of, a Ph.D. in Clinical Genetics, Functional Clinical Genomics or a related discipline, or equivalent research, industrial or commercial experience
  • 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 peer-reviewed 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.

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.

Candidates who have not yet been officially awarded their PhD will be appointed as a Research Assistant.

The College believes that the use of animals in research is vital to improve human and animal health and welfare. Animals may only be used in research programmes where their use is shown to be necessary for developing new treatments and making medical advances. Imperial is committed to ensuring that, in cases where this research is deemed essential, all animals in the College’s care are treated with full respect, and that all staff involved with this work show due consideration at every level. /

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