Research Fellow

UCL QUEEN SQUARE INSTITUTE OF NEUROLOGY

Job Description

Research Fellow

Research Department

Neuromuscular Diseases

Reports to

Director, Professor Mike Hanna

Head of Research Department, Professor Robert Pitceathly Principal Investigator, Professor Andrea

Cortese Research Fellow

Line manager: Professor Andrea Cortese

Context

Grade: 7

Location: Queen Square House/On-Site First Structure of the UCL Queen Square Institute of Neurology The Department of Neuromuscular Diseases is a hub for clinical and research excellence across the spectrum of spinal cord and neuromuscular diseases. Our group of world-leading clinical, genetic and basic science researchers focus their work on understanding the causes and biological mechanisms leading to neuromuscular diseases and translating this knowledge into developing novel therapeutic solutions that are of direct benefit to neurological disorders.

Our research groups use a powerful combination of modern non-invasive research technology, theoretical and computational approaches and a variety of cellular, animal and human models, while translational programmes include use of cell culture, molecular biology and transgenic approaches. The Department hosts several important Research Centres, including the Queen Square Motor Neuron Disease Centre, the International Centre for Genomic Medicine, the Centre for Neuromuscular Diseases, as well as the Alzheimer’s Research UK Drug Discovery Institute. We have numerous collaborative scientific and clinical research links across the Institute, UCL and

particularly strong links with the National Hospital for Neurology and Neurosurgery.

About the Cortese Laboratory

The Cortese lab focuses on the discovery and modelling of novel causes of inherited neuropathies and other neurodegenerative diseases, with particular interest in repeat expansion disorders and conditions caused by variations in non-coding DNA. One of the main commitments of the lab is the further elucidation of the mechanism and development of treatment for RFC1 CANVAS.

About the ARUK UDDI

The ARUK UCL Drug Discovery Institute couples the deep disease knowledge and biology expertise of the academic community with high quality; innovative drug discovery technologies housed within the Cruciform Building in the heart of UCL’s Bloomsbury Campus. The Drug Discovery Institute draws on a wealth of disease expertise to generate well validated targets and optimised leads.

About the Genetic Therapy Accelerator Centre The Accelerator Centre (GTAC) is to embed translational research into the basic research and clinical activities of the UCL Queen Square Institute of Neurology (ION). The Centre combines laboratory and clinical expertise focused on neuromuscular and neurological disorders, their mechanisms of disease and includes cutting-edge RNA and AAV gene therapy expertise. The Centre fosters cross-institutional collaborations and facilitates RNA and gene therapy programs.

Main purpose of the job

We are seeking a highly motivated and ambitious Research Fellow to develop novel therapeutic strategies for RFC1 CANVAS and related repeat expansion disorders. Biallelic AAGGG repeat expansions in the RFC1 gene are associated with CANVAS and are increasingly recognised as a cause of adult-onset ataxia and sensory neuropathy. Previous work from the group has demonstrated that these expansions are associated with tissue-specific reductions in RFC1 transcript expression, impaired RFC1 function and increased sensitivity to platinum-induced DNA damage. Furthermore, CRISPR/Cas9 excision of the AAGGG repeat and flanking AluSx3 element normalized RFC1 expression in iPSC neurons and rescued the DNA damage response, providing a framework for future therapeutic strategies.

You will develop and undertake targeted and high-throughput screening approaches, followed by validation of promising candidates in patient-derived and isogenic iPSC-derived neurons. This role offers substantial scope to shape the experimental direction of the project and contribute to the development of innovative therapeutic strategies for RFC1 CANVAS and related neurological disorders.

You will join the Cortese Laboratory at UCL Queen Square Institute of Neurology and work closely with the ARUK UCL Drug Discovery Institute and the Genetic Therapy Accelerator Centre, alongside collaborators within UCL and at external institutions, to advance this translational research programme.

The post is available from 01 November 2026 and funded by an ERC Award for one year in the first instance.

Duties and responsibilities

• Develop and optimise strategies to restore RFC1 expression and function, including gene reprovision and CRISPR interference.
• Design and generate CRISPR-engineered cellular models and reporter lines, including endogenous protein-tagging approaches such as HiBiT, for quantitative measurement of RFC1 expression.
• Perform molecular cloning, construct design and validation required for gene reprovision, CRISPR editing and CRISPRa experiments.
• Culture and genetically manipulate human iPSCs and generate appropriate isogenic cellular models.
• Differentiate iPSC lines into disease-relevant neuronal models and use these systems to validate candidate therapeutic approaches.
• Develop and perform genetic and small-molecule screening approaches to identify modifiers capable of increasing RFC1 expression or function.
• Characterise and validate screening hits using molecular, cellular and functional assays relevant to RFC1 CANVAS.
• Work closely with collaborators at the ARUK UCL Drug Discovery Institute and Genetic Therapy

Accelerator Centre to translate promising approaches towards therapeutic development.

• Contribute intellectually to the development of the RFC1 therapeutic programme, including experimental design, interpretation of results, publications and future grant applications.

Teaching, research, and development

• Provide teaching on topics related to your work as requested by your line manager or Head of Research Department.
• Contribute to your Department’s multidisciplinary research projects as aligned with the departmental strategy.
• Prepare and analyse data for publications for the dissemination of research and for presentation at internal meetings at UCL, meetings with external collaborators, and national and international conferences.

General

• Attend and contribute to Departmental, Institutional, and university meetings, committees, and initiatives as appropriate.
• Always act in accordance with the highest professional standards and ensure that these are maintained in the delivery of all aspects of research.
• Actively promote equality of opportunity and inclusivity, supporting policy within the remit of your role.
• Ensure the highest standard of record keeping, maintaining accurate, complete, and up-todate records.
• Ensure confidentiality is maintained as applicable.
• Follow and actively promote the UCL Ways of Working.
• Takes responsibility to carry out duties in a way that embodies UCL's environmental and social sustainability values, actively supporting within the remit of your role.

UCL’s Equal Opportunity

UCL's Sustainability Strategy, policies and objectives The above description is not exhaustive, and you will be required to undertake any other duties as may reasonably be requested within the scope, spirit, and purpose of the post.

Job descriptions are reviewed on a regular basis including at the annual appraisal. As duties and responsibilities change, the job description may be amended in consultation with the post-holder.

You will be expected to actively follow all UCL policies and procedures and complete UCL mandatory training, maintain an awareness of Fire and Health & Safety Regulations, attend meetings as required, and undertake such training and development as may be needed for the post.

All staff are required to act professionally, cooperatively, and flexibly in line with the requirements of the post and the Institute’s Code of Conduct.

Person Specification

Note to job applicant: copy and paste the following criteria into your “Statement in support of your application” and describe underneath each criteria how you meet it, giving examples. You will be scored on how you meet each criteria.

Essential Criteria

Qualifications, experience and knowledge

PhD or equivalent in Molecular Biology, Neuroscience, Genetics, Cell Biology or a relevant discipline Strong research experience in molecular and cellular biology Experience in human iPSC culture and manipulation Experience in CRISPR-based genome editing and molecular cloning Experience in generating and validating genetically engineered cell lines Good publication track record with at least one first-authored paper

Skills and abilities

Ability to independently design, optimise and troubleshoot molecular and cellular experiments Ability to successfully supervise students and junior researchers Good interpersonal and communication skills with the ability to work effectively and collaboratively as part of a multidisciplinary team Excellent oral and written communication skills Ability to manage competing priorities and meet deadlines

Desirable Criteria

Experience with CRISPRa or other approaches to modulate endogenous gene expression Experience with gene delivery/reprovision, including lentiviral and/or AAV approaches Experience with high-throughput small-molecule and/or genetic screening Experience generating reporter cell lines, including endogenous protein tagging and/or HiBiT-based assays Experience differentiating iPSCs into neuronal or other disease-relevant cell types Experience in repeat expansion disorders, neurogenetics or neurodegenerative disease models

Apply

To apply for this position visit: ucl.ac.uk/jobs Please complete the online application form and use the supporting statement section to outline your interest in joining the Cortese Lab and the Department of Neuromuscular Diseases, and how you meet the essential and desirable criteria for the role. Please also upload a recent CV.

If you have any queries regarding the application process, please contact the Institute HR Team, UCL Queen Square Institute of Neurology, 23 Queen Square, London, WC1N 3BG (email: ion.hradmin@ucl.ac.uk).

For informal enquiries about the role please contact Andrea Cortese (email: andrea.cortese@ucl.ac.uk).

The post is available from 01 November 2026 and funded by an ERC Award for one year in the first instance.

Salary

The post is graded as UCL Grade 7 with salary in the range £47,186 - £55,099 per annum, including

London Allowance.

Progression through the salary scale is incremental. Cost of living pay awards are negotiated st nationally and are normally effective from 1 August each year.

Appointment at Grade 7 is dependent upon having been awarded a PhD; if this is not the case, initial appointment will be as Research Assistant/Grade 6B (salary £40,603 - £43,749 per annum) with payment at Grade 7 being backdated to the date of final submission of the PhD thesis. It is expected that you will have had your viva prior to commencing in post.

Probation

Appointments are subject to receipt of satisfactory references and a probationary period of nine months.

Hours of work

Full time, 36.5 hours per week; times of work are as determined by the line manager or Director.

Hybrid working arrangements

The nature of this role requires you to spend most of your time working on-site (On-site First) and you are expected to spend at least 80% of your working hours on campus.

Annual leave

Annual leave is 27 working days for a full-time member of staff + 6 UCL closure days in addition to 8 Bank Holidays.

Pension

Appointments are superannuable under the Universities Superannuation Scheme (USS)

Other benefits

UCL is a dynamic, global university based in one of the most exciting capital cities in the world. Not only does working at UCL offer the opportunity to work with some of the greatest intellects in the world, it also offers competitive terms, conditions and benefits to its staff. In our 2025 staff survey, 95% of ION staff rate the Institute as an enjoyable place to work and over 90% feel that the Institute has a positive working culture.

As part of the UCL community you can access free lunch hour lectures, exhibitions and museums and collections. On campus UCL has the Bloomsbury theatre hosting a range of performances and a series of bars, cafes, and other facilities, which UCL staff can use.

In addition to 41 days annual leave (inclusive of public holidays and closure days) and generous pension schemes, UCL provides a number of other staff benefits.

UCL benefits and policies apply equally, whatever the sexual orientation and/or gender identity of employees. Benefits and policies relating to employees’ partners includes both different sex and same sex partners.