Nostos Genomics

Nostos Genomics operates at the intersection of biotechnology and artificial intelligence, providing a specialized software-as-a-service (SaaS) platform for genetic testing laboratories and hospitals. Founded in Berlin in 2018 by CEO David Gorgan and CTO Dr. Rocío Acuña Hidalgo, the company addresses a critical bottleneck in the diagnosis of rare genetic diseases: the interpretation of genetic variants. Gorgan's background is in business and the application of machine learning to diagnostics, complemented by personal experience with the challenges of genetic disease. Dr. Acuña Hidalgo is a medical doctor and human geneticist who leads the development of the company's core technology.

The company's core offering is AION, a CE-IVDR certified software platform that automates the analysis of genetic data. For genetic testing labs, the process of identifying the few disease-causing mutations from millions of genetic variants in a patient's DNA is typically a manual, laborious, and time-consuming effort that can take hours or even weeks. Nostos Genomics' solution leverages a combination of machine learning and synthetic biology to accelerate this process significantly, reducing the interpretation time for a whole exome from hours to less than two minutes. This automation aims to increase diagnostic yield, reduce the chance of misdiagnosis, and lower the overall cost of genetic testing, making it more accessible.

The AION platform functions by receiving a standard VCF (Variant Call Format) file and patient characteristics, after which its proprietary algorithms identify and prioritize likely pathogenic variants, presenting the findings in a comprehensive report. A key feature is its "white-box" approach, which allows human experts to verify the AI's predictions by providing insights into how and why variants were classified. The platform integrates a vast, regularly updated knowledge base of over 100 annotations and has been clinically validated on a large scale using data from Genomics England's 100,000 Genomes Project. Since its founding, Nostos Genomics has secured a total of $5.65 million in funding over two seed rounds, with key investors including 42CAP, Frontline Ventures, and Entrepreneur First. This capital is being used to expand into new European markets and the United States, as well as to further the platform's development.

Keywords: genetic variant interpretation, rare disease diagnostics, AI in genomics, clinical decision support, CE-IVDR certified software, genetic testing labs, SaaS for genomics, pathogenic variant identification, automated genetic analysis, machine learning in genetics, synthetic biology, David Gorgan, Rocío Acuña Hidalgo, AION platform, exome sequencing analysis, VCF analysis, genomics data interpretation, diagnostic yield improvement, bioinformatics, healthtech, Berlin biotech, Entrepreneur First, 42CAP, Frontline Ventures