Funding period: October 2024 to September 2027
Funding amount: € 450,000
Led by Prof Dr Peter Kühnen of Charité – Universitätsmedizin Berlin, the project aims to establish nationwide genetic screening for newborns in Germany. This will enable life-saving therapies to be initiated at a very early stage of the disease. Prof Dr Annette Grüters-Kieslich, Scientific Director of Alliance4Rare, emphasises the urgency of this screening: Early diagnosis is the key to improving the quality of life and life chances of affected children. With this project, we are doing pioneering work in Germany!
Pioneering work: from research into practice
Charité – Universitätsmedizin Berlin will tackle this ambitious project in collaboration with the university hospitals in Dresden and Heidelberg. During the three-year pilot phase, it is planned to screen around 15,000 newborns per year for rare genetic diseases – diseases for which effective therapies are already available if they are detected at an early stage. State-of-the-art bioinformatics and clinical expertise enable the efficient evaluation of genetic data. The close exchange between research and practice, a central pillar of the Alliance4Rare network, ensures that families can be helped as quickly and effectively as possible.
Special thanks to the Friede Springer Foundation for their funding: this ground-breaking development is only possible thanks to the support of our Alliance4Rare funding partners!
Picture: Peter Kühnen
