DISEASE-01: Innovative healthcare interventions for non-communicable diseases

Call goal: run early-stage trials (phase 1 and/or 2 for drugs) of new treatment or disease-management interventions for cardiovascular disease, diabetes, chronic respiratory disease or chronic kidney disease. Proof of concept, preclinical work and a draft protocol must be complete at submission.

What we contribute:

·       Identification of monogenic subgroups in trial populations (e.g. familial hypercholesterolaemia, MODY, monogenic kidney disease).

·       PGx profiling to explain variability in drug levels, response and adverse events in phase 1 and 2.

·       Genetic and epigenetic stratification, as the call's stratification criteria suggest.

·       Automated analysis and FAIR data management for trial and real-world data.

·       Full variant spectrum (copy-number and structural variants, compound heterozygotes, long-read data where available) for reliable detection of monogenic subgroups.

·       API and LIMS integration to process trial samples in automated batches from raw reads to report.

·       GDPR-aligned, EEA-hosted data handling under ISO 13485 and ISO/IEC 27001, supporting the trial's ethics and regulatory consultations.

Why it strengthens the consortium: early-stage trials often show variable responses that the sponsor cannot explain. Geneyx answers the call's stratification criteria (genetic and epigenetic variation) with monogenic subgroup detection and PGx profiling, which can explain outliers, refine patient selection and support personalized follow-up trials. Automated analysis and FAIR data handling also cover the call's data-management and real-world-data expectations with little extra effort for the clinical partners.