Rare Disease Day

Rare Disease Day

Building a brighter future - Our Biomedical Research Centre (BRC) has a wealth of having discussions with patients to identify the challenges they face, their concerns and their needs, and in facilitating relationships with multiple stakeholders to influence sight loss and vision research. With a commitment to ensuring this experience helps to give a voice to those who are under-represented, the BRC offers these patients its expertise and resources.

When combined with patients’ commitment and determination, there have been some impressive results. Here are some examples demonstrating the great achievements of such inspirational interactions.

100,000 Genomes Project


Genomics England

This project is sequencing 100,000 DNA codes of patients, leading to better, earlier diagnosis and personalised care, for cancer, rare diseases and infectious diseases.

For more information on this ground-breaking project, please click here to visit the Genomics England website or download the PDF icon100K Genomes Project leaflet

If you have any enquiries regarding this project, please contact Samantha Lawrence by email.