Rare Disease Research UK

What Rare Disease Research UK does

Rare Disease Research UK (RD-TRC) is a UK-wide research platform launched in July 2023 to coordinate and accelerate research into rare diseases. The platform is built around a central coordinating Hub at Newcastle University and a network of 11 specialized research nodes distributed across leading UK universities, each focused on distinct capabilities such as cell and gene therapy, genomic medicine, bioinformatics, lipidomics, metabolomics, and nucleic acid therapeutics. The platform serves academic researchers, NHS clinical teams, patient communities, and industry partners seeking to translate rare disease science into therapies, with Genetic Alliance UK embedded as a partner to coordinate the involvement of more than 70 patient organizations across the country.

The platform's underlying technical components include multi-omic analytical pipelines, genomic variant interpretation frameworks, polygenic risk scoring, and LC-MS/MS lipidomic methods, all of which draw on access to NHS clinical data, Genomics England sequencing infrastructure, and national biobanks. The November 2025 UK Regulatory and Access Frameworks workshop, the annual conference series, and the January 2026 Involvement by Design Report formalize the platform's role as a convening and translational authority linking scientific research, patient involvement, and regulatory pathways.

Rare Disease Research UK's business model is non-commercial: it is funded by a £14 million joint grant from the Medical Research Council and NIHR over five years, with no disclosed product pricing, licensing revenue, or customer contracts. Its "customers" in the functional sense are researchers and patient cohorts served through the nodes, while its funding base is concentrated in two UK government research bodies. Industry engagement occurs through translational partnerships such as the LifeArc collaboration on the RareMap project, but these are research collaborations rather than commercial revenue streams.

Name

Rare Disease Research UK

Legal name

Rare Disease Research UK

Website

https://rd-research.org.uk

Company type

Private

Founded year

2023

Operating status

Operating

Headcount range

1–10 employees

Short description

Rare Disease Research UK is a publicly funded national research platform launched in July 2023 that coordinates 11 specialized research nodes across UK universities to accelerate rare disease science, serving academic researchers, NHS clinicians, patient organizations, and industry partners under a £14 million MRC/NIHR grant.

Ownership category

akta.pro rank

Product category

Rare Disease Research Platform

NAICS

Research and Development in the Physical, Engineering, and Life Sciences (54171), Research and Development in Biotechnology (except Nanobiotechnology) (541714), Scientific Research and Development Services (5417)

SIC

Services-Commercial Physical & Biological Research (8731), Services-Health Services (8000)

akta.pro primary industry

Rare Disease & Special Needs Support Organizations (BPAGACAM)

Keywords

• Rare disease research
• Clinical research coordination
• Genomic medicine research
• Translational research platform
• Patient involvement research

Headquarters

HQ city

Newcastle upon Tyne

HQ country

United Kingdom

HQ region

Europe

Offices1 record

Markets served

GTM type

B2B

Offering type

Services

Cost components

Personnel, Operations, Technology or R&D, Marketing or Sales, Infrastructure

Revenue model

1. Government Research Funding: The platform was established with £14 million investment over five years from the Medical Research Council (MRC) and National Institute for Health and Care Research (NIHR) for rare disease research coordination and projects

Distribution channels4 records

Marketing channels7 records

Core offering

Rare Disease Research UK operates a UK-wide research coordination platform consisting of a central Hub led by Newcastle University and eleven specialist research nodes based at universities across the United Kingdom. The platform coordinates academic, clinical, industry and patient communities to accelerate diagnosis, treatment and understanding of rare diseases affecting approximately 3.5 million people in the UK. It supports activities including national genetic variant databases, lipidomics/metabolomics diagnostics, nucleic acid therapy development, biobanking, clinical trial design and patient and public involvement and engagement (PPIE).

Product overview

Rare Disease Research UK is a UK-wide research platform launched in July 2023 following a £14 million investment from MRC and NIHR. The platform consists of a central coordinating Hub led by Newcastle University (partnered with Newcastle NHS Trust and Genetic Alliance UK) and eleven specialist research Nodes based at universities across the UK. The Nodes include: Cardiovascular, CAPTIVATE, ExPRESS, EpiGenRare, ELSI, HistioNode, Lipidomics and Metabolomics, mTOR Pathway Diseases, REOLUT, CILIAREN, and UPNAT. Additional services include Patient and Public Involvement and Engagement (PPIE) support, the RareMap landscape discovery tool, and annual conferences. The platform aims to improve diagnosis and treatment of rare diseases through better understanding by bringing together academic, clinical, industry researchers, patients, and charities.

Differentiator

Problem solved

Functional benefit

Products and services

• Rare Disease Research UK Platform (Hub) UK-wide research coordination platform consisting of a central coordinating Hub led by Newcastle University in partnership with The Newcastle upon Tyne Hospitals NHS Foundation Trust and Genetic Alliance UK. Provides cohesion and support to eleven specialist research nodes and serves researchers, NHS clinicians, industry partners, patient organisations and policymakers working on rare disease diagnosis and treatment.
• Cardiovascular Initiative Node Research node tackling fundamental challenges in understanding rare inherited cardiovascular conditions (ICCs), building a national variant database by linking all genetic testing laboratories across England in partnership with the NHS Genomic Medicine Service, Genomics England, the British Heart Foundation Data Science Centre and Cardiomyopathy UK. At least 1 in 200 people are affected by rare cardiovascular conditions.
• CAPTIVATE Node Research node bringing together UK leading trial experts to develop better ways to test new medicines for rare diseases in clinical trials, including 'one-stop-study' designs and Bayesian statistical methods to address the challenge of small patient populations.
• ExPRESS Node Early Assessment, Diagnosis and Treatment of Parkinsonism and Related Syndromes study focusing on Parkinson's disease, PSP, CBS and MSA. Aims to recruit at least 500 patients between 2023 and 2028 to build a biobank of blood samples and genetic data to improve early diagnosis accuracy and prognosis. Partners include PSP Association and MSA Trust.
• EpiGenRare Node Research node coordinating epigenomics of rare disorders, developing multi-omic approaches combining genomic and epigenomic data for accurate diagnosis, biomarker identification and identification of groups of diseases with common epigenetic mechanisms for therapeutic targeting. Co-led at University of Exeter and University of Manchester.
• ELSI Node Research node addressing ethical, legal and social implications of genetic testing and rare conditions research, focusing on consent, access to genomic testing, and the psychosocial impact of living with rare conditions. Led from the University of Manchester.
• HistioNode Research node tackling pressing problems caused by histiocytic disorders including HLH and histiocytic neoplasms, through networking, biobanking and collaboration with the National Disease Registration Service (NDRS). Patient involvement partner is Histio UK.
• Lipidomics and Metabolomics Node Research node bringing together mass spectrometrists, clinical scientists and patient groups to establish new routes for clinical access to metabolomic tests for rare disease diagnosis, translating LC-MS/MS methods for NHS metabolic laboratories and integrating lipidomics and metabolomics with genomics for diagnosis of syndromes without a name.
• mTOR Pathway Diseases Node Research node uniting rare mTOR pathway diseases as a single group including TSC, PROS and Smith-Kingsmore syndrome to improve diagnosis, treatment and clinical outcomes through united clinical and research efforts. Led from King's College London; the lead chairs the Platform Executive Board.
• REOLUT Node Research node creating a network of clinicians and researchers across the UK for rare early onset lower urinary tract disorders, including new types of genetic analysis to find causes of severe inherited bladder problems and genomic approaches for diagnosis and therapy optimisation.
• CILIAREN Node Renal Ciliopathies National Network establishing harmonised clinical, imaging and genetic work-up for all renal ciliopathy patients in the UK to improve diagnosis and develop precision medicine approaches, including functional validation for patient diagnosis and risk stratification of kidney failure.
• UPNAT Node UK Platform of Nucleic Acid Therapy for rare disease treatment, creating a national network to facilitate development of antisense oligonucleotide and other nucleic acid therapies for rare genetic disorders. Brings together scientists, clinicians, geneticists, patient advocates, industry partners and regulatory bodies, including MHRA engagement to streamline regulatory approvals.
• Patient and Public Involvement and Engagement (PPIE) Service Cross-cutting service delivered in partnership with Genetic Alliance UK supporting Platform members in delivering patient involvement through sharing best practice, guidance, webinars and workshops. Includes webinars on Introduction to Co-Production and Introduction to PPIE and the publication of 'Involvement by design' (January 2026) on addressing structural and cultural barriers to PPIE in academic research.
• RareMap Project creating an accessible resource introducing major UK-based rare disease programmes and their typical roles, including an interactive online tool for exploring the rare disease-relevant organisational landscape, a written report and a directory of organisations. Developed in collaboration with LifeArc in 2025.

Quantifiable outcome

• 500+ patients to be recruited for ExPRESS Parkinsonism study between 2023-2028
• +2 more outcomes

Named customers4 records

Segments4 records

Ideal customer profiles4 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

AI capability12 records

Feature4 records

Partnerships

15 partnerships are on record, tiered core and minor.

• LifeArccoreStrategic or Co-development Partner · 1 January 2025Collaboration on RareMap project to map UK rare disease research landscape and create interactive online resource
• Newcastle UniversitycoreStrategic or Co-development Partner · 1 July 2023Lead institution for the central coordinating Hub of the Rare Disease Research UK Platform
• The Newcastle upon Tyne Hospitals NHS Foundation TrustcoreStrategic or Co-development PartnerPartner in the Hub leadership consortium alongside Newcastle University and Genetic Alliance UK
• Genetic Alliance UKcoreStrategic or Co-development PartnerPartner in the Hub leadership consortium providing patient advocacy expertise and PPIE coordination
• NHS Genomic Medicine ServicecoreStrategic or Co-development PartnerPartnership with Cardiovascular Node to build on NHS clinical genetic testing pathways for rare cardiovascular research
• Genomics EnglandcoreStrategic or Co-development PartnerCollaboration to bring together genomic data for rare cardiovascular conditions research
• British Heart Foundation Data Science CentreminorStrategic or Co-development PartnerPartner in Cardiovascular Node research for data linkage and analysis
• Cardiomyopathy UKminorOthersPatient organisation partner for Cardiovascular Rare Disease Node providing patient perspectives and engagement
• PSP AssociationminorOthersUK charity partner for ExPRESS node research on Parkinsonism and related syndromes
• MSA TrustminorOthersUK charity partner for ExPRESS node research on multiple system atrophy
• Histio UKminorOthersPatient involvement partner for HistioNode working on histiocytic disorders research
• MRC Centre for Neurodevelopmental Disorders (CNDDs)minorStrategic or Co-development PartnerJoint symposium partner with mTOR Pathway Diseases Node for rare neurodevelopmental disorders research
• The Mary Lyon Centre at MRC HarwellminorStrategic or Co-development PartnerJoint event host for Resources and Funding Opportunities in Rare Diseases workshop
• MRC National Mouse Genetics NetworkminorStrategic or Co-development PartnerJoint event host for Resources and Funding Opportunities in Rare Diseases workshop
• National Disease Registration Services (NDRS)minorStrategic or Co-development PartnerCollaboration with HistioNode to understand medical needs of patients with histiocytosis across UK regions

Scale indicators8 records

Recent moves7 records

Expansion highlights6 records

Market position

Strengths4 records

Weaknesses4 records

Competitive moat6 records

Key risks5 records

Key highlights6 records

Customer concentration

• LinkedInlinkedin.com/company/rdruk

Revenue estimate

Valuation estimate

Number of profiles

Profiles16 records

Subsidiaries12 records

Funding overview

Funding rounds

Investors

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about Rare Disease Research UK