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Rare Desease

Biotechnology at the service of rare hereditary diseases

Transform global genetic data into medical decisions, which focus on creating greater awareness for patients of all ethnicities in the world.


Diploide Genetics was founded with the vision of transforming the science of clinical and genetic data into medical solutions for patients with orphan diseases.


This view is based on the fact that among the 7,000 rare diseases identified, it is estimated that 80%, or 5,600, have a genetic origin. Of these rare hereditary diseases, approximately only 4% have a treatment approved by the FDA.


As it usually takes an average of about seven years to diagnose a patient with a rare disease, there is a significant unmet overall need for high quality genetic information in the rare disease space for early identification, effective treatment of Patients and The acceleration of the development of orphan drugs.


Diploide's data repository, which we believe is the world's largest repository of genetic information on rare hereditary diseases, combines clinical and epidemiological data throughout the world, and detailed access to phenotype, genotype, proteomics and metabolomics data to help in the development of new treatments.


Diploide is guided by the belief that a comprehensive and detailed understanding of the genetic basis and clinical phenotype of rare hereditary diseases will unlock the ability to attack rare diseases and provide critical knowledge that will guide and facilitate each stage of orphan drug development.

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