Rare Disease Lead ScientistinSheffieldinSheffieldPUBLISHED THU 5 DEC 2024

An exciting opportunity has arisen to join the North East & Yorkshire Genomic Laboratory Hub at Sheffield Children's NHS Foundation Trust, Leeds Teaching Hospitals Trust or Newcastle Hospitals Trust as our Rare Disease Lead Scientist. The post holder may select which of these Trusts they wish to be based at.

NEYGLH provides both Core Rare Disease services and Specialised services for Neurology, Musculoskeletal, Respiratory, Inherited cancer, Mitochondrial, Haematology and Gastrohepatology.

Genomics is key to transforming healthcare in England and continues to undergo positive transformation. NEYGLH has undergone significant changes and operates as a single GLH across our three sites. We provide a broad scope of technologies and have established bioinformatics and informatics teams supporting our technical and scientific services.

You will be HCPC registered, have FRCPath and have significant, broad practical and theoretical knowledge of Human Genetics with several areas of highly specialist skills and detailed knowledge in genomic service relevant to the post.

This role covers the whole NEYGLH. You will work with the GLH Directors and management team and with the rare disease teams across our region. We anticipate that you will be embedded within one of our three sites (selected by you).

You will be providing scientific leadership across the NEYGLH. This includes long term strategic planning across the whole service area, working with both national and local scientific teams and NEY clinical directors and leadership teams and providing expertise on professional issues relating to genomic testing in NEY.

Through developing and participating in networks, you will actively contribute to the organisational, local, regional and national agendas for Genomics by ensuring good communication across the organisation on regional and national issues. You will actively support regional system development and contribute to regional networks.

About us

Please refer to the job description and person specification for full details of the role.

Inclusive Recruitment & Selection

We are committed to being an inclusive employer and accurate data capture is an important part of that to ensure we are supportive and representative. Our aim is to ensure that all applicants can see themselves in the available categories on our application form, but we recognise that some of our data capture fields are not inclusive. We have flagged this with our system provider to ask for change.

We offer encouragement and active support to applicants with additional needs, including those from ethnic minorities, with disabilities and members of the LGBTQ+ community. If you wish to adjust any aspect of the recruitment process or wish to find out more about our recruitment & selection processes, please get in touch with our Recruitment Manager:

We are continually reviewing our recruitment & selection process to support the long-term aim of Sheffield Childrens being a champion of Equality, Diversity, and Inclusion. If you have any ideas for improvement, please get in touch with Catherine Gilbert at

Trust Values

The Trust is committed to providing great quality patient care and keep children, young people and families at the heart of what we do by following our CARE values:

• Compassion leading by kindness and showing empathy, understanding and respect
• Accountability striving to do the right thing and owning responsibility
• Respect value differences, tackling inequality and fostering a culture of inclusion
• Excellence delivering a high-quality standard of care