Genomic medicine

Our Genomic medicine theme aims to use advances in genomic technologies and methods to support effective interventions both before and after birth in order to reduce the burden of childhood disease.

Using state-of-the-art techniques, we hope to improve diagnosis and understanding of childhood diseases while supporting the development of new treatments for rare conditions.

We also work closely with patient and public involvement and engagement teams to ensure that our research is always focused on patient needs and that we understand their views as genomics becomes a part of standard clinical care.

We aim to do this through 5 key workstreams:

1. Using genomic sequencing to increase the rate of diagnosis for children with rare diseases.
2. Combing large-scale genomic datasets with electronic patient records to identify new associations between genetics and clinical presentations.
3. Furthering our expertise in the area of 'cell-free DNA' to improve non-invasive pre-natal diagnosis and tumour monitoring.
4. Leading research into pathogenic genomics and how data can be used as part of infection control.
5. Investing in new genomic technologies, like single cell sequencing and machine learning, to further our understanding and improve the treatment of rare diseases.