SciTransfer
Recon4IMD · Project

AI-Driven Personalized Diagnostic Software for Inherited Metabolic Diseases

healthTestedTRL 5

Imagine your body's chemistry as a giant map of interconnected roads. In some rare diseases, a few roads are blocked, but it's hard to find exactly where the jam is. This project builds a digital twin of a patient's metabolism to pinpoint the exact blockage and suggest a personalized treatment plan.

By the numbers
1,945
diagnosed patients recruited for training
685
undiagnosed patients for validation
34
consortium partners
The business problem

What needed solving

Diagnosing rare inherited metabolic diseases is often slow and imprecise, leading to delayed treatment. There is a lack of standardized, regulatory-compliant software that can personalize treatment based on a patient's unique genetic and metabolic profile.

The solution

What was built

A regulatory-compliant software medical device that generates personalized computational models of human metabolism. It includes the PROTRIDER algorithm for proteomic analysis and a clinical data platform called IMD-Hub.

Audience

Who needs this

Rare disease diagnostic clinicsPrecision medicine software developersMetabolic disorder pharmaceutical researchersGenomic data analysis firms
Business applications

Who can put this to work

Diagnostics
mid-size
Target: Clinical Diagnostic Laboratory

If you are a diagnostic lab dealing with long delays in identifying rare metabolic disorders — this project developed regulatory-compliant software that uses genomic and proteomic data to accelerate diagnosis. It leverages models trained on 1,945 patients to find answers faster.

Pharmaceuticals
enterprise
Target: Rare Disease Drug Developer

If you are a biotech company dealing with unpredictable patient responses to metabolic drugs — this project developed personalized computational models that identify compensatory mechanisms. This allows for better patient stratification using data from 1,945 diagnosed cases.

Health IT
SME
Target: Medical Software Provider

If you are a software vendor dealing with a lack of specialized tools for rare disease management — this project developed a software medical device designed for clinician access. It integrates deep learning-based protein structure prediction into a usable interface.

Frequently asked

Quick answers

What is the cost or pricing model for the software?

Based on available project data, no specific pricing or cost details are provided.

Can this be scaled to an industrial level?

The project aims for broad applicability across various inherited metabolic diseases and is designing the software to be accessible to clinicians and regulatory-compliant, suggesting a path toward scale.

What is the IP and licensing strategy?

Based on available project data, specific licensing terms are not mentioned, though the project is developing a roadmap for a European foundation to ensure long-term impact.

Does the software meet medical regulations?

Yes, the project explicitly states that the software is being implemented to be admissible to regulatory authorities as a software medical device.

What is the timeline for deployment?

The project runs from 2023-06-01 to 2027-05-31, with the software development occurring within this window.

Consortium

Who built it

The consortium is heavily academic, consisting of 19 universities and 9 research organizations across 13 countries. With 0% industry participation and 0 SMEs, the project is currently a research-driven initiative. This indicates a high level of scientific rigor but a potential gap in immediate commercialization expertise, which may be addressed by the proposed European foundation.

How to reach the team

Contact the University of Galway regarding the software medical device implementation.

Next steps

Talk to the team behind this work.

Contact us to find a commercial partner to bridge the gap between this academic research and market entry.

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