Clinical Bioinformatician (Senior Research Fellow)

About us

Primary mitochondrial diseases are a genetically diverse group of conditions that can be caused by variants in either mitochondrial or nuclear DNA. The Department of Neuromuscular Diseases at UCL Queen Square Institute of Neurology (IoN) has a longstanding history of excellence in primary mitochondrial disorders research, including the first description of mutations in mitochondrial DNA causing disease published in Nature in 1988. We are co-located with National Hospital for Neurology and Neurosurgery, which houses the London NHS Highly Specialised Service for Rare Mitochondrial Disorders. This gives us a highly translational focus and the opportunity work with patients and to collaborate with leading NHS clinical scientists in genomics and neuro-metabolism. Our team includes clinical, basic science and informatic researchers which cover the full remit of genomics, pathophysiology, clinical trials and drug discovery for mitochondrial disease.

We work closely with leading mitochondrial clinical and research services in Oxford and Newcastle. Together with these groups we have secured funding from the mitochondrial disorders’ charity The Lily Foundation to drive the next diagnostic uplift in mitochondrial disorders in the UK.

About the role

We are seeking an experienced bioinformatician to work on the forthcoming The Lily Precision Diagnostics Project. This exciting role will involve working alongside clinicians to re-evaluate existing WES and WGS datasets, and develop innovative pipelines for new datasets from WGS, RNAseq and Long Read Sequencing. This is a unique opportunity to work closely with a patient charity and make a difference in patients’ lives by applying cutting edge science. This work will be highly impactful and drive the next improvements in NHS diagnostics.

The role is based within UCL IoN and Great Ormond Street Hospital (North Thames Genomic Laboratory Hub bioinformatics/ translational teams). You will benefit from a highly supportive supervisory environment with input from the GOSH principle bioinformatician and an experienced PI in mitochondrial diseases.

You will develop and implement pipelines for, and interpret results from, genetic tests for suspected mitochondrial disease. This will involve applying and or developing cutting edge tools for interpretation of variants including heteroplasmic, splicing and structural variants in NGS data and working with long read and transcriptomic data.

You will be responsible for the effective and timely delivery of robust research data, which you will maintain in a highly organised and secure database.

You will report to Dr Robert Pitceathly and will present regularly to the steering and clinical interpretation committees for The Lily Precision Diagnostics Project and engage with charity activities. You will also work on projects related to The Lily Foundation study in the mitochondrial team e.g., gene discovery, mouse model work.

An honorary contract will be sought from UCLH NHS Foundation Trust, for which a DBS check will be required.

The post is available immediately and is funded by The Lily Foundation for three years in the first instance with potential for further extension to the contract.

This role is eligible for hybrid working with a minimum of 40% on site. Flexible working arrangements may be considered on request.

For a full job description and to apply for this role please visit UCL’s online recruitment portal and search using vacancy reference B02-04903.

About you

This post is for an experienced independent bioinformatician comfortable with Python scripting and Linux system administration with strong knowledge of rare disease genetics.

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