Rare disease companies develop diagnostics, therapies and research technologies for conditions affecting relatively small patient populations. Their work often focuses on inherited disorders, complex diagnostic pathways and diseases with limited or no existing treatment options.
This category includes companies working on:
Browse 128 UK rare disease companies below.
Patient-controlled DNA biobank platform for precision prescribing insights
GeneHub is a London-based digital health company operating a patient-controlled biobank platform that rewards patients with free DNA tests and insights in exchange for sharing…
Generic and branded prescription medicines development and supply
Northumbria Pharma is a pharmaceutical company specialising in the development, manufacture, licensing, and supply of generic and branded prescription medicines across primary and…
Oncolytic viral therapies engineered for intravenous cancer treatment
Theolytics is a clinical-stage biotechnology company developing oncolytic viral therapies for cancer. Its phenotypic screening platform enables the discovery and development of…
AAV gene therapy company targeting inherited and common retinal diseases
Beacon Therapeutics is a clinical-stage UK biopharma company developing adeno-associated virus (AAV) gene therapies for retinal diseases causing blindness. Its lead programme,…
Pharma-university venture funding early-stage translational research
Apollo Therapeutics is a biopharma company advancing therapeutic programmes derived from research at partner universities including Cambridge, Imperial College London, UCL, King's…
Engineered macrophage cell therapy for inflammatory and fibrotic disease
Resolution Therapeutics is a clinical-stage biotech developing regenerative macrophage therapies for inflammatory and fibrotic diseases. Its platform harnesses the…
AI-driven mass spectrometry biomarker services for diagnostics and drug development
Guilford Street Laboratories Ltd is a contract research organisation providing machine learning-powered mass spectrometry services for biomarker discovery, assay development, and…
AI-powered drug discovery and repurposing for rare diseases
Healx is a clinical-stage biotech applying AI to drug discovery and repurposing for rare diseases. Its platform analyses drug and disease data at scale to identify novel treatment…
Specialty biopharma with UK neurotoxin manufacturing hub
Ipsen is a French specialty biopharmaceutical company with one of three global hubs based in the UK. Its Wrexham site serves as the company's global neuroscience centre of…
Preimplantation and prenatal genetic testing for reproductive medicine
Juno Genetics is a specialist reproductive genetics laboratory providing preimplantation genetic testing (PGT) services to IVF clinics in the UK and internationally. Using its…
AI-driven AAV capsid engineering for next-generation gene therapy
Lir Therapeutics is an early-stage biotechnology company redesigning adeno-associated virus capsids for gene therapy using an AI-first platform. Its platform integrates…
Silicon-based RNA delivery platform for rare disease therapeutics
SiSaf is a biopharmaceutical company developing RNA therapeutics using its proprietary platform, which combines bioabsorbable silicon with organic lipid materials to improve the…