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Directory

Rare Disease Companies in the UK

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:

  • Orphan drugs and rare disease therapeutics
  • Genetic testing and molecular diagnostics
  • Gene, RNA and cell therapies
  • Biomarkers and natural history studies
  • Patient identification and clinical development

Browse 128 UK rare disease companies below.

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Rare Diseases
Showing 25–36 of 128
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Inoviv

Greater London

Multiplexed LC-MS proteomics for biomarker development and clinical trials

Inoviv is a bioanalytical contract research company providing multiplexed, quantitative LC-MS targeted proteomics services to pharmaceutical and biotech clients. Its platform…

CRO
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Mariposa Therapeutics

Wales

Small molecule therapies for keratin-related skin disorders

Mariposa Therapeutics is a Welsh preclinical biopharma company developing disease-modifying treatments for epidermolysis bullosa simplex and other keratin-related skin disorders.…

Biopharma
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Syneos Health

South East England

Full-service clinical and commercial solutions across the drug development lifecycle

Syneos Health is a global biopharmaceutical solutions organisation providing integrated clinical and commercial services to pharmaceutical, biotechnology and medical device…

CRO
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Roche Products

East of England

Global biopharma with UK R&D hub in Hertfordshire

Roche Products is the UK pharmaceutical arm of F. Hoffmann-La Roche, headquartered at Welwyn Garden City in Hertfordshire. The site employs over 1,900 people and serves as a…

Biopharma
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Actigen

East of England

Rare disease clinical trial specialist focused on patient-centred design

Actigen is a contract research organisation specialising in the design and delivery of clinical trials for rare and orphan diseases. Working in partnership with therapy developers…

CRO
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Neurocrine UK

Wales

Circadian hormone therapeutics for rare endocrine conditions

Neurocrine UK is the European operations of Neurocrine Biosciences, a Cardiff-headquartered specialty pharmaceutical company developing and commercialising hormone therapeutics…

Biopharma
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Spur Therapeutics

East of England

AAV gene therapies for rare and neurological diseases

Spur Therapeutics is a clinical-stage biotechnology company developing adeno-associated virus-based gene therapies for serious chronic diseases. Its lead programme is a Phase I/II…

Biotech
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Orchard Therapeutics

Greater London

Ex vivo haematopoietic stem cell gene therapies for rare genetic diseases

Orchard Therapeutics is a gene therapy company developing ex vivo haematopoietic stem cell therapies for rare genetic diseases, primarily severe neurometabolic and immunological…

Biopharma
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AviadoBio

Greater London

AAV gene therapies for neurodegenerative diseases including FTD and ALS

AviadoBio is a clinical-stage gene therapy company developing AAV-based treatments for neurodegenerative diseases. Its lead programme, AVB-101, is in a Phase 1/2 trial for…

Biopharma
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ViaNautis

East of England

Nanoparticle platform for targeted genetic medicine delivery

ViaNautis is a nanomedicine company developing a polymer nanoparticle platform for the targeted intracellular delivery of genetic therapeutic payloads across…

Biotech
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Bitrobius Genetics

North West England

DNA-based gene therapy platform for intercellular therapeutic gene delivery

Bitrobius Genetics is a UK biotech developing a novel DNA-based gene therapy platform technology designed to deliver functional copies of mutated genes to cells within a target…

Biotech
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Drug Discovery Unit, University of Dundee

Scotland

Integrated academic drug discovery facility for anti-infectives and innovative targets

The Drug Discovery Unit is an academic drug discovery facility at the University of Dundee, integrating medicinal chemistry, high-throughput screening, structural biology, cell…

Research OrganisationCRO
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