Research Fellow in genetics of inherited neuromuscular diseases(UK Visa Sponsorship)
Job Description
About the Department
The Department of Neuromuscular Diseases is internationally recognised for excellence in clinical care and research across spinal cord and neuromuscular disorders. Our researchers combine clinical insight with genetics, computational science, and experimental biology to uncover disease mechanisms and translate discoveries into meaningful therapeutic advances.
The department hosts several major research centres, including the Centre for Neuromuscular Diseases, the Queen Square Motor Neuron Disease Centre, and the International Centre for Genomic Medicine, alongside strong partnerships with UCL faculties and the National Hospital for Neurology and Neurosurgery.
The Research Programme
The International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) was established to tackle global inequities in genomic research by improving representation of patients from low- and middle-income settings. Since 2019, the centre has built one of the world’s most diverse genetic and phenotypic datasets for neuromuscular disease.
The next phase, ICGNMD-2, begins in March 2026 and is funded by the Medical Research Council until January 2029
This programme focuses on advancing diagnostic yield, biological insight, and access to genomic medicine worldwide.
About the Role
We are seeking a highly motivated Bioinformatician Research Fellow to play a central role in analysing large-scale genomic and transcriptomic datasets derived from individuals with inherited neuromuscular diseases.
You will work with short-read, long-read, and RNA-sequencing data, applying and developing analytical pipelines to support gene discovery, diagnosis, and research innovation. There is strong scope for methodological development and first-author publications.
This role offers close collaboration with clinicians, geneticists, and laboratory scientists, with opportunities to influence real-world clinical decision-making in rare disease genomics.
Key Responsibilities
In this role, you will:
- Analyse and interpret genomic and transcriptomic datasets (DNA and RNA sequencing)
- Develop, adapt, and optimise bioinformatics pipelines for rare disease analysis
- Work with high-performance computing environments to manage large datasets
- Contribute to diagnostic interpretation and research discovery
- Collaborate with international research partners and clinical teams
- Communicate findings clearly through reports, presentations, and publications
- Support reproducible, ethical, and transparent research practices
- Shortlisted candidates will complete a practical bioinformatics exercise and present their findings during interview.
Person Specification
Essential Criteria
You will have:
- A PhD in bioinformatics, or equivalent professional experience
- Strong understanding of human genetics and neuromuscular disease biology
- Proven experience analysing DNA and RNA sequencing data
- Proficiency in R, Python, and/or Bash scripting
- Experience working with High Performance Computing (HPC) systems
- Strong organisational skills and the ability to meet project milestones
- Excellent teamwork and communication skills in multidisciplinary settings
Appointment and Progression
Appointment at Research Fellow level is dependent on completion of a PhD.
Candidates who have submitted but not yet been awarded their PhD will initially be appointed as Research Assistant (£39,148 – £41,833), with promotion and salary backdated upon thesis submission.
Visa and Right to Work
This role meets eligibility for UK visa sponsorship under:
Global Talent visa (research route)
All appointments are subject to UK Right to Work checks
Salary and Benefits
UCL offers an excellent benefits package, including:
- 41 days’ leave per year (annual leave, bank holidays, and closure days)
- Option to purchase additional annual leave
- Defined benefit CARE pension scheme
- Cycle to Work scheme and season ticket loan
Immigration loan
- On-site nursery and gym facilities
- Enhanced family leave and wellbeing support
Flexible Working
We actively support flexible, part-time, and job-share arrangements, subject to role requirements.
Equality, Diversity and Inclusion
We are committed to creating a research environment where everyone can thrive. Our practices align with the Equality Act 2010, ensuring fairness, accessibility, and respect for all
We particularly welcome applications from candidates underrepresented in academic research, including individuals from Black, Asian and minority ethnic backgrounds, disabled researchers, LGBTQI+ communities, and women.
How to Apply
Please submit:
- A current CV
- A completed online application form
- A supporting statement or cover letter outlining how you meet the criteria
- Additional attachments will not be considered.
For informal enquiries, contact Dr Lindsay Wilson, Centre Research Manager.
For application support or reasonable adjustments, contact the Institute of Neurology HR Team.
