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Shedding light on the dark genome: using AI to fight diagnostic blind spots

For decades, genomic diagnostics focused on just 2% of our DNA – the protein-coding part – leaving the vast ‘dark genome’ largely uncharted. Now, Lucid Genomics, a spin-off from the Max Planck Institute for Molecular Genetics and Charité – Universitätsmedizin Berlin, is revealing its diagnostic potential.

Founded by Uirá Souto Melo and M-Hossein Moeinzadeh, Lucid builds on groundbreaking work by Prof. Dr Stefan Mundlos (Charité) and Prof. Dr Martin Vingron (MPI), who showed that mutations in non-coding DNA can contribute to disease. But analyzing these regions is technically challenging – whole genome sequencing data is vast and noisy, especially with short-read technologies.

Lucid’s solution is an AI-driven platform that transforms noisy sequencing data into clear, actionable insights. It denoises data from short-read technologies, enhancing its quality to match that of long-read sequences, and then interprets it using machine learning and a deep genomic knowledge base.

Currently available for research use, the platform is already attracting a growing international customer base. Lucid is also in discussions with major diagnostics players and has initiated the process of regulatory approval. The long-term goal: an in vitro diagnostic device that could one day redefine clinical genomics.

The founding team was supported by Ascenion and Max Planck Innovation, both equity holders. ‘If you’re thinking about founding a company,’ says Uirá Souto Melo, ‘bring in tech transfer experts early. They become true teammates – helping you navigate key steps of the journey.’

 

(Annual Review 2024/25)