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Cardiff University Biobank

Cardiff University Biobank (opens in new tab) is a centralised biobanking facility sited at the University Hospital of Wales.  It offers high quality human biosamples for research undertaken for patient benefit to academic and commercial organisations. The biobank have established collections from a number of different disease areas and welcome approaches to initiate new collections not already established within the facility.

The facility has the capacity to store up to 900,000 biological samples. Patients and healthy volunteers have kindly donated biological samples to enable researchers to gain a deeper understanding of diseases. The samples are crucial in allowing researchers to find better ways to diagnose, prevent, treat and possibly find a cure to a wide range of medical conditions.

Rare Disease Research Network

The Rare Disease Research Network (opens in new tab) is a partnership project between CamRARE and the Patient Led Research Hub, funded by the National Institute for Health and Social Care Research (NIHR) and sponsored by Cambridge University Hospitals NHS Foundation Trust.

The project aims to support the rare disease community in building an online network of partnerships and resources to facilitate new patient-centred research opportunities. The network will promote equity by allowing more rare diseases, and the patient groups supporting their communities, to be seen and heard in the research space.

Rare Disease Research UK

Rare Disease Research UK (RDRUK) was established to connect and enhance the UK's strengths in rare disease research. The RDRUK Platform (opens in new tab) brings together in one place the expertise of each of the eleven research nodes, fostering greater collaboration between academic, clinical and industry researchers, patients, research charities and other key organisations in rare disease research.

It is acknowledged that UK academic laboratories have world-leading expertise in modern lipidomics and metabolimics techniques, but at the moment this is so specilaist that it is not used for most patients and therefore they do not benefit from the most recent technology developments. The Lipidomics and Metabolomics for Rare Disease Diagnosis node (opens in new tab), lead by Professor William Griffiths, Swansea University, brings together experts from accross the UK to address some of these challenges, and to establish new routes for clinical access to single tests that can identify metabolomic disorders targeted at rare diseases, enabling earlier diagnosis, intervention, monitoring of treatment, and improved clinical outcomes.

Wales Gene Park Rare Disease Research Gateway

Wales Gene Park is funded by the Welsh Government through Health and Care Research Wales. Hosted by the Division of Cancer and Genetics (DCG) at Cardiff University (CU) School of Medicine, Wales Gene Park supports and promotes genetic and genomic research across Wales, thereby aiding the implementation of the Welsh Government’s Genomics for Precision Medicine Strategy.

Wales Gene Park has worked with patients and families, the public and other partners to bring together in one place as much information as possible about rare disease research projects for Welsh patients – the Rare Disease Research Gateway (opens in new tab).

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