Rare Disease Lead Scientist

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., 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.

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.

At Sheffield Children's, our purpose is clear: to provide healthier futures for children and young people. Our three strategic aims are:
1. Outstanding Patient Care
2. Brilliant Place to work
3. Leaders in Children's Health

We work successfully with local, regional, and national partners to provide physical and mental healthcare across acute and community settings. Many of our clinicians are amongst the best in their field, recognised nationally and internationally for their expertise.

As well as having enormous pride in what we do, we are a friendly, welcoming, and motivated NHS Trust who are guided by our CARE values: Compassion, Accountability, Respect, and Excellence. Our nearly 4000 colleagues live these values, ensuring kind and compassionate care that makes patients and their families feel safe and at home.

As we approach our 150th anniversary in 2026, we remain committed to enhancing our reputation in children's health leadership, improving the experiences of both patient and colleagues, and focusing on our communities and population health.