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Genetic Disorders

Genetic disorders affect nearly 350 million families with children, worldwide.
Still, accurate diagnosis and treatment remain a great challenge for patients, doctors, and healthcare systems.





Diagnosis of a rare genetic disorder is a long and painful journey that takes on average six to eight years and dozens of medical appointments. Sometimes, the answer never comes, as current diagnostics do not always provide a diagnosis, and finding a cause can be compared to finding a needle in the haystack.

Also, access to cutting edge technology is often limited due to the prohibited costs and, even when used, it requires scarce expert knowledge to unlock the genomic insights with the current technology.



At gMendel® we think diagnosis first. By combining first-class sequencing technology and Artificial Intelligence, we bring down the time and cost to an accurate diagnosis and offer care givers an automated workflow to decide on a potential treatment.

Our gMendel®Test is a novel diagnostic tool, based on Oxford Nanopore sequencing technology, that provides real-time analysis of hundreds of molecular barcodes simultaneously in less than 24 hours. Variants are analysed, classified and assessed through our Phivea™ Platform by using customized Deep Learning architectures at all levels of the learning process. Following a multi model fusion strategy, the Platform combines outcomes of individual models into a single, accurate medical interpretation.


Genetic Disorders