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Alliance4Rare funding: Newborn genetic screening pilot project launched

Around five million people in Germany are living with rare, mostly genetic diseases. Many of these diseases could be diagnosed in newborn babies - but the diagnosis is often made too late. This delays early treatment, which could significantly improve the prognosis of these children. A newborn genetic screening pilot project funded by Alliance4Rare is now paving the way for early diagnosis and treatment of children with rare genetic diseases.

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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

As part of the Alliance4Rare funding programme, university hospitals in Berlin, Dresden and Heidelberg are working together to implement this ambitious project. 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

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