Our Platform

UPNAT Node aims to further promote the development of Nucleic Acid Therapeutics for patients with Rare Disease in the UK, by creating a national network of experts from across the UK.

The mTOR Pathway Diseases node will unite rare individual mTOR pathway diseases as a single group to improve the diagnosis, treatment and clinical outcomes for mTOR pathway disease patients.

The Lipidomics and Metabolomics node aims to bring together experts from across the UK to enable earlier diagnosis, intervention, monitoring of treatment, and improved clinical outcomes for those with Rare Disease.

The HistioNode is an initiative to bring together doctors, scientists and patient groups within the UK Rare Disease Research Platform to tackle the most pressing problems caused by Histiocytic Disorders.

The Early Assessment, Diagnosis and Treatment of Parkinson’s Plus Related Syndromes (ExPRESS) node is a new UK study of Parkinson’s Plus syndromes to improve the early diagnosis of rare Parkinson’s Plus Conditions such as progressive supranuclear palsy, and corticobasal syndrome and multiple system atrophy and to improve the accuracy of both diagnosis and prognosis.

The EpiGenRare node will help address several unmet needs and will allow us to accelerate diagnoses and treatments for epigenetic disorders.

The Ethical, Legal and Social Implications (ELSI) node aims to address important issues that are faced by those with rare disease by driving innovation in issues ranging from referral pathways to the impact of rare conditions, and the design of clinical trials for treatments of rare conditions.

The CAPTIVATE node will bring together the UK’s leading trial experts with hospital researchers experienced in rare diseases, industry partners, regulators, policy makers and patient partners, to develop better ways to test new medicines for people with rare diseases in clinical trials.

The Cardiovascular Rare Disease Node is bringing researchers from across the UK together to tackle fundamental challenges in our understanding of rare inherited cardiovascular conditions through uniting patient data and creating a register of patients who would like to be involved in research studies.

The REOLUT node aims to improve the lives of children with rare bladder conditions by creating a network of experts who can work together to find the causes of inherited bladder problems and gain more knowledge about how organs develop, helping us to understand why things go wrong and look at different treatment option.

The CILIAREN node aims to improve renal ciliopathy patient care nationwide, develop the networks of patient groups that are eligible to participate in clinical trials and build partnerships with academics and industry.