Screen4Care LogoFor too many people living with rare diseases, getting a correct diagnosis is a lengthy process that negatively impacts patients and their family.

Through an innovative research collaboration called Screen4Care, PTC will be working alongside 36 international partners from academia, industry, and patient advocacy organizations to find solutions to shorten the path to diagnosis and find appropriate care for rare disease patients and their family.

Screen4Care is a European research project that aims to significantly shorten the time required for rare disease diagnosis and efficient intervention by utilizing genetic newborn screening and advanced analysis methods such as machine learning. The project was launched in October 2021 with a total budget of EUR 25 million provided by the Innovative Medicines Initiative (IMI 2 JU), a joint undertaking of the European Union and the European Federation of Pharmaceutical Industries and Associations (EFPIA) and will run for a total period of five years.

Ludovic Baillon, Genetics and Diagnostics Lead at PTC, will be a dedicated project co-lead and will work on several work packages.

I am very thankful to the consortium for welcoming our contribution to Screen4Care. This is a true testimony to PTC’s long-lasting commitment and expertise in rare diseases. I look forward to working alongside like-minded colleagues on the development of innovative solutions to streamline the journey to diagnosis.

PTC has been committed to supporting the rare disease community for more than 20 years, and with this initiative, PTC sets out to accelerate rare disease diagnosis.

For more information about Screen4Care, visit