Nostos

Nostos Genomics GmbH is a Berlin-based bioinformatics company whose product, AION, applies machine learning to the interpretation of genetic variants for rare and genetic disease diagnostics. The company frames the problem as a shift in the genomics bottleneck: DNA sequencing has become fast and inexpensive, while interpreting the resulting variants and identifying disease-causing mutations remains slow and labour-intensive. AION automatically prioritises and classifies likely pathogenic variants and generates a report and result export, with an exome interpretation completed in under 30 minutes.

The workflow has three steps: users upload a FASTQ or VCF file, add family members and define patient characteristics such as symptoms encoded as HPO terms; they then review a ranked list of relevant variants and associated diseases; and finally download a full report as PDF and spreadsheet. The company emphasises a "white-box" design in which each AI prediction is intended to be verifiable by a human expert, exposing the factors behind a variant's classification. Reported performance is greater than 93% sensitivity in trios based on validation studies covering 2022-2025. At the time of its 2022 seed round the company said Aion could identify variants responsible for more than 10,000 diseases and had CE marking, and it was running a large-scale validation study using data from Genomics England.

The company states that AION is GDPR compliant and CE-IVDR certified (reference MD 786788), the latter announced in April 2025 and described by the company as a first for an AI-powered variant interpretation platform. Its imprint lists Dr. Ben Liesfeld as managing director, an address at Stresemannstraße 123, 10963 Berlin, registration at the Local Court of Charlottenburg under HRB 203261 B, and VAT ID DE324901201.

Founding story

Public sources trace the company's origin to the observation that improvements in DNA sequencing moved the constraint in genomics from data generation to variant interpretation, prompting the development of software to convert sequencing output into clinically actionable findings. One secondary source states the company was co-founded by David Gorgan and Dr. Rocío Acuña Hidalgo, with Acuña Hidalgo as CTO, and attributes to the founding team the view that functional genomics data could address biased, noisy and sparse training data in variant interpretation; that source dates the founding to 2018, which conflicts with other records.

Business model

Nostos Genomics supplies AION as a hosted software platform to genetic testing laboratories, positioned as requiring no implementation or integration work. Users submit sequencing files and receive automated interpretation output, reports and exports. Sources describe the offering and its intended customers but do not disclose pricing or contract structure.

Not specified in the available sources beyond the sale of access to the AION software platform to laboratories.

Traction

Public evidence of traction consists of testimonials from named laboratory users in Austria, Germany and Denmark, a large-scale validation study with Genomics England data reported in 2022, validation studies spanning 2022-2025 underpinning the >93% trio sensitivity claim, and CE-IVDR certification in 2025. No customer counts, case volumes or revenue figures are disclosed.

Latest developments

2025 activity includes the April CE-IVDR certification announcement, a series of news posts in April and May 2025 on AI in clinical context, variant interpretation and the patient journey, a 8 September 2025 updated white paper on AION performance, and a homepage announcement that Nostos and Limbus are joining forces (no further detail given in the sources).