New partner brings valuable expertise to the table: Biopharma company PTC Therapeutics joins Screen4Care

Accelerating rare disease diagnostics through genetic newborn screening and digital solutions.

Since launching in October 2021, Screen4Care is dedicated to shorten the diagnosis journey for people living with rare diseases. This month, the consortium is pleased to announce that an additional partner, with valuable knowledge in the field of rare diseases and genetic therapy development, has joined Screen4Care’s mission. The new partner, PTC Therapeutics, is a global biopharmaceutical company, specializing in treatments for rare diseases. With PTC Therapeutics, Screen4Care is now uniting 36 multidisciplinary expert partners from 15 countries. The project will run for another four years 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).

Although rare diseases collectively impact over 300 million people worldwide, most of the individual conditions have a low prevalence with often limited lengthy diagnostic possibilities. Screen4Care wants to tackle this issue and develop solutions to significantly shorten the diagnosis odysseys for people living with rare diseases.

The project offers an innovative research approach to accelerate the path to rare disease diagnosis based on two pillars: genetic newborn screening and digital solutions. With these tools, Screen4Care strives to empower and inform patients and their families, stimulate digital transformation, connect the rare disease communities and involve all stakeholders in the decision-making processes towards an accelerated proper diagnosis.

Experts in rare disease gene therapy join Screen4Care

Screen4Care comprises multidisciplinary and international project members. The partners are diversely specialized in the field of rare diseases and now welcome the biopharmaceutical company PTC Therapeutics to the consortium.

Screen4Care’s new partner brings relevant and innovative science. PTC Therapeutics discovers and develops treatments for people living with a rare disease. Furthermore, the company shares Screen4Care’s core belief that, through the newest technologies available, it is possible to find faster and better ways to diagnose rare disease patients. Their mission is to provide access to best-in-class treatments for those affected by rare disease patients.

“PTC Therapeutics brings long-standing experience in rare disease research, development and commercialization to the table. Their expertise will contribute meaningful new insights and powerful resources to the Screen4Care initiative,” says Dr. Nicolas Garnier, EFPIA Project Lead of Screen4Care. “We are very pleased to welcome them and their fresh perspectives to our mission.”

Looking forward to shortening the path to rare disease diagnosis together.