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.
Cannabinoid medicines, neuroscience and oncology drug development
Jazz Pharmaceuticals is a global biopharmaceutical company focused on medicines for neuroscience and oncology. Its UK operations, centred at Kent Science Park in Sittingbourne,…
National genomics research and NHS whole genome sequencing
Genomics England is a government-owned organisation that partners with the NHS to deliver whole genome sequencing diagnostics and advance genomic medicine in the UK. It operates…
Specialist CRO for oncology, rare disease, and neurology clinical trials
Evestia Clinical is a global specialist contract research organisation providing full-service and functional clinical trial support to biotech and pharmaceutical companies. The…
Biomarker-driven CRO integrating clinical trials and laboratory sciences
Precision for Medicine is a full-service contract research organisation built around biomarker-driven clinical development. The company integrates clinical trial execution with…
Ion channel drug discovery platform for rare CNS disorders
Autifony Therapeutics is a clinical-stage UK biotech developing small molecule modulators of Kv3 voltage-gated potassium channels for rare genetic CNS disorders. Lead programmes…
Decentralised clinical trial site bringing research to participants
The Virtual Clinical Trial Centre is a clinical research organisation operating a network of flexible, patient-centric trial sites across the UK and Spain. Its decentralised model…
AI platform combining retinal imaging and genomics for inherited eye disease diagnosis
Eye2Gene is an AI-powered precision ophthalmology platform combining retinal imaging with genomic analysis to accelerate diagnosis of inherited retinal diseases. Using a neural…
Academic-industry translational research institute
The Milner Therapeutics Institute is a University of Cambridge biomedical research institute established to bridge academic science and pharmaceutical drug discovery. Founded in…