Bioinformatics and AI in the service of genetics


GenomeUp, Rome, Italy

According to WHO data, there are up to 8,000 rare diseases, most of which of genetic origin, which afflict more than 400 million people worldwide, of which about 60 million European and American citizens.



Today we are seeing an increasing demand for testing of a larger number of genes with two problems: lack of time to dedicate to complex cases and that 71% of laboratories in USA are close to full capacity.
Also, globally 50% of new patients are children and 30% won’t live to see their 5th Birthday. That’s happening because the clinical process in the field of rare diseases is hard, because a lot of stakeholders are unable to share information, documents and materials, so transforming the process long, from months to years to diagnose a genetic disease, generating a high rate of errors.


We accelerate the diagnosis process for rare genetic disease, supporting clinicians and researchers with Digital MedTech solutions to improve the quality life of patients and their families. We are a lighthouse to rescue from the Odyssey ...