Italy’s AI-powered rare genetic disease detector GenomeUp raises $1.2 million

Rome-based medical SaaS GenomeUp is using Artificial Intelligence to power a series of solutions for genetic analysis and clinical decision support for diseases, and has raised $1.2 million in a seed funding round. The investment will be used to bolster the team size and further continue the development of the platform.

Founded in 2017, GenomeUp, by definition, operates in a niche sector: accurate diagnosis and an accurate treatment plan for individuals suffering from rare genetic diseases.

In order to provide this service, the company’s flagship offer, JuliaOmix, provides a platform for physicians and genetics biologists to collaborate. By collecting a complete view of patients' health data (symptoms, drugs treatment, and phenotypes) and combining them with the patient’s omics data (whole genome, exome, and microbiome), the company provided an AI-based clinical interpretation and report of genomic variants. 

And while the service offers great relief to patients of today, GenomeUp’s longer-term goal is to build a reference platform ultimately capable of accelerating diagnosis times, improving patient care, and providing a far greater understanding of genetic diseases.

“GenomeUp has developed several bioinformatics tools and protocols to make data and metadata - today big health data - traceable, accessible, interoperable and reusable, necessary for researchers and clinicians who want to give an answer to the millions of people who face the odyssey of the diagnosis of a genetic disease, even more so if rare,” commented CEO and founder Simone Gardini.

GenomeUp’s $1.2 million seed round was led by Lumen Ventures, with a|impact, Finalca, GCM Group, Padda Health participating.