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Company description

MedBioinformatics is a life sciences data and AI company with over 15 years of domain expertise, dedicated to streamlining the journey from complex biological data to actionable insights. The company serves drug discovery researchers, clinical scientists, and bioinformaticians by providing cutting-edge solutions in natural language processing (NLP), AI, knowledge graphs, and semantic data integration — all aimed at accelerating the development of innovative and safer products that prioritize human health and well-being.

At the core of MedBioinformatics' offering is DISGENET, widely recognized as the world's most reliable and extensive gene-disease association database. Established in 2010, DISGENET provides immediate access to information equivalent to having read over 30 million biomedical articles, with more than 38,000 disease associations, an NLP F-score of 92%, and over 8,200 citations worldwide. The platform is used by academic researchers, pharmaceutical companies, and rare disease specialists to identify genetic variants, explore disease mechanisms, and support precision medicine initiatives.

Core Products and Platforms

• DISGENET: The flagship gene-disease association knowledge platform, offering comprehensive and up-to-date data on disease genomics to accelerate drug R&D and unlock new precision medicine possibilities. It is available under academic and commercial licensing, with free core access for academic and not-for-profit researchers.
• Natural Language Processing (NLP) Solutions: State-of-the-art NLP tools that make textual biomedical data searchable, analyzable, and actionable. These solutions are used to extract structured insights from unstructured scientific literature, enabling faster and more informed innovation.
• AI and Knowledge Graphs: AI-driven capabilities that reveal insights from complex biological networks, providing fine-grained and comprehensive coverage of intricate relationships between biomolecules, supporting target identification and mechanistic research.

Key Capabilities

• Semantic data integration that connects disparate biological and clinical datasets into coherent, queryable knowledge structures.
• NLP-powered extraction of gene-disease associations from the biomedical literature at scale, achieving a 92% F-score for accuracy and reliability.
• Support for preclinical data interoperability and regulatory alignment, including work aligned with the SEND (Standard for Exchange of Nonclinical Data) framework for nonclinical toxicology studies.
• Application of human genetics to drug target identification, helping to increase the probability of clinical trial success by linking targets to validated disease mechanisms.
• Enabling researchers to explore rare disease genomics, protein misfolding pathways, DNA methylation changes, and variant-disease relationships.

Notable Initiatives and Partnerships

• MedBioinformatics participates in the IHI JU VICT3R initiative, a public-private partnership supported by the Innovative Health Initiative Joint Undertaking (IHI JU), aimed at transforming nonclinical drug and chemical safety evaluation through the use of virtual controls and significantly reducing the number of animals used in experimental studies.
• The company is involved in the TransSEND approach, which addresses the challenge of making preclinical toxicology data — including dense tables, semi-structured datasets, and PDF reports — consistent, reusable, and regulatory-ready.
• DISGENET has been cited over 8,200 times worldwide and is actively used by researchers at institutions including Oslo University Hospital, Pennsylvania State University, and biotech companies such as Inocras.

Customer and Research Community

• Researchers use DISGENET to identify connections between genes with DNA methylation changes and rare disease phenotypes, such as Cri du Chat syndrome.
• Clinical and genomic teams rely on DISGENET's large, well-structured database to find variant-disease references and present evidence for rare disease diagnoses.
• Scientists studying protein misfolding and disease pathology have described DISGENET as a game-changer for understanding the consequences of proteins failing to adopt their native functional structures.
• The platform serves over 100,000 web users globally, spanning academic, not-for-profit, and commercial life sciences organizations.

MedBioinformatics continues to expand DISGENET's potential and broaden its suite of AI and NLP solutions, positioning itself as a trusted partner for organizations seeking to harness the full value of biomedical data in the pursuit of safer, more effective therapeutics and precision medicine applications.

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Software attributed to MedBioinformatics

• DISGENETView

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