This Berlin-based Startup Leverages a Unique Combination of Machine Learning and Synthetic Biology to Identify Gene Variants Responsible For Diseases

More than 400 million people, or around 5% of the world’s population, suffer from hereditary diseases such as epilepsy, musculoskeletal ailments, and autism. Only 30% of individuals who undertake genetic testing are diagnosed, and only 30% of those diagnosed can obtain medical care tailored to their needs. Genetic testing is a labor-intensive and time-consuming process and is unsuitable as a standard diagnostic tool.

The venture Nostos Genomics, founded in 2018 by David Gorgan (CEO) and Dr. Roco Acua Hidalgo (CTO), wants to transform this equation. Its artificial intelligence system, termed ‘AION,‘ claims to find gene variations that cause more than 10,000 diseases. As a result, diagnosis time is reduced from 12 hours to two minutes on average. According to the organization, AION offers the following benefits:

  • Fast and Automated 

In less than 2 minutes, the company claims that AION can deliver an exome interpretation. A detailed report and results export is also prepared automatically.

  • White-box Approach 

AION claims to provide “how” and “why” variants. It not only identifies them but also prioritizes them.

  • Accurate Decision Support 

The AI-powered platform claims precise and dependable decision-making assistance that exceeds rules-based ACMG classification by more than 50%.

The fully automated approach could if successful, boost process accuracy and minimize the risk of misdiagnosis, in addition to drastically lowering expenses and enhancing testing accessibility. 

The algorithm works systematically and works per the following steps:

  1.  Sumit Case Data 

Define patient characteristics by uploading a VCF file.

  1.  Review Results

Get a list of the top ten variations, along with the disease that goes with them. The white-box approach enables the user to uncover the underlying elements that influence whether a variation is pathogenic or benign.

  1. Get Full Report 

Receive a comprehensive report that includes all pertinent details. It’s available as a PDF, a CSV export, or through the company’s API. 

The company’s CE-IVD-certified technique has already been introduced throughout Europe, and patent proceedings for Nostos technology are underway in the United States. Genomics England data is also being used in large-scale validation research.

This Berlin-based AI-powered genetic analysis platform has received a €5 million seed investment. The funds will be used to expand the startup’s development staff and begin a series of investigations, as well as to spread its pioneering genetic illness diagnosis technology to additional European markets and the United States.

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