A University of Galway (UG) research project has received a proof-of-concept grant from the European Research Council (ERC) to advance the development of a clinical decision support system to diagnose rare and inherited metabolic diseases.

iChatRD is an AI-assisted, fully transparent clinical decision support tool suggests expert-level rare disease diagnoses from unstructured patient descriptions within seconds. 

The new funding, which is provided under the Horizon Europe programme, will be used to translate the research prototype into a practical, clinically relevant tool, which is also aligned with regulatory requirements and market needs. The team will develop ChatRD2.0 through best practices, working alongside metabolic disease specialists, paediatricians, and frontline clinicians to ensure the tool is shaped by the people who will use it.

The project is led by Professor Ines Thiele and Research Fellow, Dr Cyrille Thinnes from the School of Medicine, School of Biological and Chemical Sciences and the Digital Metabolic Twin Centre at UG.

Dr Cyrille Thinnes, University of Galway, said: “For patients with rare diseases, reaching a diagnosis can take years and involve consultations with a dozen or more physicians. This funding gives us the opportunity to turn ChatRD, currently a research tool, into something clinicians can, and want to, use in their daily practice. Our goal is to put a reliable decision support system in the hands of the doctor who sees a patient on day one, not year five. Crucially, every suggestion ChatRD produces is fully explainable, so the clinician can see exactly why a disease was flagged, which we believe is essential for fostering trust in AI-assisted medicine.”

Professor Ines Thiele, University of Galway, said: “When exploring avenues for translating our fundamental research on digital metabolic twins into patient-focused applications, we kept encountering a major challenge: the richest clinical information exists as free text: the language of a human, not of a computer. ChatRD bridges this gap, by enabling metabolic modelling and natural language work together to suggest candidate diagnoses for inherited metabolic diseases. The ERC Proof of Concept grant now helps us take ChatRD into the real world, by working directly with clinicians to help shorten the diagnostic odyssey that may burden rare disease patients for years.”

A second UG project, GelEV, has also been awarded proof-of-concept funding. GelEV will focus on the development of new technology that could significantly improve the delivery of next-generation regenerative medicines for tissue injury. The project aims to validate a novel hydrogel designed to deliver extracellular vesicles (EVs), tiny particles secreted by cells, allowing them to work more effectively.

The project is led by principal investigator Dr Meadhbh Brennan and technical lead Dr Hannah Aris from the School of Engineering.

Commenting on the funding, Dr Meadhbh Brennan said: “By creating a delivery platform compatible with a wide range of EV therapies, the GelEV ERC proof-of-concept project has the potential to accelerate the development of new treatments for tissue injury indications, while supporting the growing extracellular vesicles therapeutics industry.”

Two other Irish projects have also received grants. A University of Limerick project, called Eve Heals, hopes to heal diseases affecting the skin using in-vitro engineered living substitutes. University College Dublin Professor of Biomedical Engineering, Prof Niamh Nowlan, has received ERC funding to further her ‘Grow-Reg’ project, which is attempting to identify specific cell surface markers that aid in the growth of children’s bones. The goal is to help develop treatments designed to speed up or slow down growth of one or more bones without systemic drugs or surgeries.

The four Irish research projects will share in total funding of €27m, which has been allocated to 182 European researchers with ideas that show potential for commercial or societal impact. Each individual grant is worth €150,000.

Announcing the awards, Ekaterina Zaharieva, European Commissioner for Startups, Research and Innovation, said: “These 182 projects show that curiosity-driven science and real-world impact go hand in hand. With proof-of-concept funding, ERC researchers can test how their discoveries could become new treatments, technologies, services or solutions that benefit people across Europe.”