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 141 UK rare disease companies below.
ADC pipeline targeting mutant stem cells in blood cancers
Alethio Therapeutics Limited is a preclinical-stage biotechnology company developing antibody-drug conjugates for myeloproliferative neoplasms, a group of chronic blood cancers. Its pipeline targets the mutant stem and progenitor cells that drive disease progression and fibrosis, with the aim of modifying rather than…
Global commercialisation of specialty, hospital and rare disease medicines
ADVANZ PHARMA is a global pharmaceutical company focused on the commercialisation of specialty, hospital and rare disease medicines, partnering with biopharma and pharmaceutical development companies to bring treatments to patients. The company's portfolio spans therapeutic areas including hepatology,…
Targeted antibody therapeutics for cancer and autoimmune disease
Medannex is a clinical-stage biopharmaceutical company developing monoclonal antibody therapeutics targeting annexin-A1, a protein implicated in cancer progression, autoimmunity, and inflammation. Its lead asset, MDX-124, is the first therapeutic antibody to target annexin-A1 and is currently being evaluated in the…
Biologic therapies for autoinflammatory and autoimmune diseases
Kiniksa Pharmaceuticals International is a commercial-stage biopharmaceutical company focused on acquiring, developing and commercialising medicines for autoinflammatory and autoimmune diseases with significant unmet need. Its approved product, rilonacept, is an IL-1 inhibitor indicated for recurrent pericarditis. The…
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 anonymised genetic data with researchers and clinicians. The platform aims to support precision prescribing, helping reduce adverse drug…
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 secondary care. Its portfolio spans multiple therapeutic areas including rare diseases, neurology, respiratory, and oncology supportive…
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 adenovirus-based candidates optimised for intravenous delivery and specific patient populations. The lead programme, THEO-260, entered Phase…
AI-guided RNA therapies for chronic metabolic diseases
Elarna Bio is a biotechnology company developing long-acting RNA therapeutics for chronic metabolic diseases. It combines AI-driven discovery with RNA engineering to improve the duration of therapeutic activity. The platform focuses on challenges associated with liver-targeted RNA treatments and is intended for…
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, laru-zova (AGTC-501), is in Phase II/III clinical trials for X-linked retinitis pigmentosa. The pipeline also includes preclinical programmes…
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 College London, and the Institute of Cancer Research. Originally a joint venture between three universities and AstraZeneca, GSK, and…
Targeted small-molecule drugs for brain and metastatic cancers
Sentinel Oncology is a biotechnology company developing targeted small-molecule drugs for difficult-to-treat cancers. Its medicinal chemistry programmes investigate DNA damage responses and cell division. Some candidates are designed to cross the blood-brain barrier, targeting primary brain tumours and cancers that…
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 tissue-repairing properties of macrophages, engineering them to deliver anti-fibrotic and anti-inflammatory effects at sites of organ damage. The lead…
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 precision medicine. The company specialises in high-sensitivity multi-omic analysis of protein, lipid, and metabolite biomarkers, supporting…
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 relationships, enabling multiple discovery programmes to run in parallel. The lead programme targeting neurofibromatosis type 1 entered…
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 excellence, responsible for research, development and manufacture of neurotoxin products including botulinum toxin. The London site houses…
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 proprietary next-generation sequencing platform, the company screens embryos for chromosomal abnormalities and single-gene disorders, and…
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 high-throughput experimental data generation with machine learning models trained on structural, functional and immunogenicity representations of…
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 stability, safety, and transfection efficiency of nucleic acid payloads. The platform addresses known limitations of conventional lipid…
Real-world clinical data platform for life science research
Arcturis is a real-world data and evidence company that aggregates longitudinal, secondary-care patient records from a network of NHS hospitals into research-ready, regulatory-grade datasets. The platform combines structured and unstructured clinical data with molecular and genomic information, and is supported by HRA…
AI-driven isoform sequencing platform for movement disorder and ageing research
Entelo Bio is an Oxford-based biotechnology company developing a proprietary single-cell isoform sequencing and AI platform to decode disease biology in conditions affecting human movement and ageing. Built on research from the University of Oxford's Botnar Institute for Musculoskeletal Sciences, the platform combines…