NHS Rare and Inherited Disease Genomic Network of Excellence

The goal of the NHS Rare and Inherited Disease (RID) Genomic Network of Excellence (NoE) is to advance rare disease diagnosis and patient care. The RID NoE is led by the South West, North West and the North East and Yorkshire Genome Medicine Service Alliances and benefits from partnerships with an extensive group of leading NHS Trusts, academic institutions, Genomics England, NIHR infrastructure, international collaborators, the third sector and industry. This network consists of four work packages:

1. Developing new pathways for improving clinical care of patients with rare conditions

2.Development of new diagnostic testing approaches for rare conditions

3. Increasing efficiency of analysis and reanalysis using data driven approaches

4. Increasing capacity and expertise for rare condition clinical trials

The Rare and Inherited Disease Genomic Network of Excellence in Manchester

These projects build on rare conditions expertise in the Manchester and previous projects supported by the NW GMSA.

1. Using long read sequencing approaches to improve diagnosis of individuals living with rare conditions who remain unsolved after standard care diagnostics (WP2)

2. Expanding the application of DNA methylation-based testing in rare conditions. (WP2)

3. Using RNA-based testing to resolve variants of uncertain significance. (WP2)

4. Patient-focussed data reanalysis for individuals living with rare conditions who remain unsolved after short read genome sequencing. (WP3)

5. Improved access to therapies for individuals living with rare conditions. (WP4)

6. Training the next generation of health professionals in treating individuals living with rare conditions. (WP4)