Even stronger together: Eva Luise and Horst Köhler Foundation and Wirtgen Stiftungen support AI project to diagnose rare diseases

"GestaltMatcher Database" of the Arbeitsgemeinschaft für Genom-Diagnostik (AGD) uses human faces as an indication diagnoses.

Every year, around 500,000 children worldwide are born with rare hereditary diseases. The diagnosis of these rare diseases is an immense challenge. Under the leadership of Prof Dr Peter Krawitz, Director of the Institut für Genomische Statistik und Bioinformatik (IGSB) at the University Hospital Bonn and Chairman of the Board of the Arbeitsgemeinschaft für Genom-Diagnostik (AGD), a team of international scientists has succeeded in using artificial intelligence (AI) to make diagnosis much more efficient and reliable. The developed "GestaltMatcher" AI system uses the human face as an indication for the diagnosis: Based on characteristic facial features the disease can be identified with a high degree of accuracy.

Matching funds for GestaltMatcher Database: partnership for hope and healing.

Supported by the Eva Luise and Horst Köhler Stiftung and the Wirtgen Stiftungen, Prof. Dr. Krawitz and his team can now continue and professionalise the use of the system and the expansion of the accompanying GestaltMatcher database: With 100,000 euros each over a period of four years, both foundations are funding the further development of the comprehensive and constantly growing collection of medical image data from patients with rare diseases. The funding enables the valuable data to be made available to medical professionals and scientists worldwide. In consideration of "FAIR" principles - Findable, Accessible, Interoperable and Re-usable - it is ensured that access and data use are carried out in the interests of patients.

AI application with potential to revolutionise the diagnosis of rare diseases.

The committees of the two sponsoring foundations are convinced of the great potential of the project: "Early diagnosis can make all the difference in rare diseases," explains Prof. Annette Grüters-Kieslich, Chair of the Board of the Eva Luise and Horst Köhler Stiftung for people with rare diseases. "The GestaltMatcher database offers extremely innovative and forward-looking approaches here." The joint funding with the Wirtgen Stiftungen is also "exactly in line with the partnership approach of our Alliance4Rare research initiative", says the Professor of Paediatrics. Jürgen and Stefan Wirtgen, founders of the Wirtgen Stiftungen, also emphasise the special nature of the joint funding: "The matching funds allow us to pool particularly effectively: Together we are enabling this promising project a growth strategy that will spread the well-established procedure to a wider audience. This will give many people with rare diseases the chance of an early diagnosis and better prospects."

Further information: www.gestaltmatcher.org