Newcastle Biobanks

Great North Biobank

Great North Biobank

The aim of this biobank collection is to facilitate research on heritable disorders, that is diseases that result from inborn errors within our genes.

Often this may involve trying to identify important genetic changes and/or understand how they produce a particular disorder. This type of research often ends up teaching us about what normal genes do, underpinning the development of new diagnostic tools and improved therapy.

We receive samples and clinical information from children and adults with a range of suspected inborn errors; many are patients at the Great North Children's Hospital. We also welcome samples from unaffected family members and healthy volunteers.

Samples and clinical information are provided to researchers without any personal details. Although their results do not directly influence the management of individual patients, relevant findings are fed back to the medical team.

Curator details

Curator: Dr Sophie Hambleton

Email: Sophie.hambleton@ncl.ac.uk

Access policy

For access see our sample access page.

Download the Great North Biobank access policy (PDF: 94KB)

Projects

Projects supported by this biobank:

  • Exomic analysis of rare monogenic disorders to identify causal mutations - a pilot study
  • biological studies using material from the Great North Biobank: the molecular basis of novel primary immunodeficiencies
  • recognition and activation of human immune cells by Candida albicans cell wall components.