Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies
Screen4Care logo


Start Date
End Date
IMI2 - Call 23
Grant agreement number

Type of Action: 
RIA (Research and Innovation Action)

IMI Funding
11 938 569
EFPIA in kind
13 485 000
Total Cost
25 423 569


There are over 7 000 known rare diseases. Between them they affect up to 36 million people in the EU alone, and they will affect 1 in 17 people during their life time. Many rare diseases are severe, long-lasting and affect multiple parts of the body. Yet getting a diagnosis takes an average of eight years, during which the patient will go through countless consultations, tests, misdiagnoses and ineffective treatments, even as their condition continues to worsen.

The aim of Screen4Care is to dramatically shorten the time it takes rare disease patients to get a diagnosis and treatment. It will do this through two avenues.

Firstly, the project will drive the genetic screening of newborn babies using genetic testing and advanced genomic technologies. The genetic testing of newborns makes sense because just over 70 % of rare diseases have a genetic cause, and a majority of rare diseases affect children.

Secondly, the project will design new artificial intelligence (AI) algorithms to identify rare disease patients early on in their disease via electronic health records. The project will also develop a repository of AI ‘symptom checkers’ to help patients who are already waiting for a diagnosis. Both of these AI tools will speed up the diagnosis of older rare disease patients.

In addition, Screen4Care aims to establish a digital infrastructure and ecosystem to engage patients, parents of newborns and caregivers as equal decision-makers in the diagnosis process. The ecosystem will provide an open innovation platform, which allows for continuous data collection and information exchange, aiding the development of next-generation diagnostics and enabling physicians, patients and relatives to make informed decisions at an earlier stage.

The ambitious project brings together experts with a wide range of expertise, including genetics, data management, ethics, and cybersecurity as well as the rare disease patient community. Ultimately, the project hopes to have a real impact on patients’ lives by shortening the time taken to diagnose rare diseases. For patients, this will result in a better quality of life thanks to faster access to not only effective treatments, but advice on things like lifestyle adjustments, family planning and genetic counselling – important elements given the genetic nature of many rare diseases.

Participants Show participants on map

EFPIA companies
  • F. Hoffmann-La Roche AG, Basel, Switzerland
  • Illumina Cambridge Limited, Great Abington, United Kingdom
  • Lysogene, Neuilly sur Seine, France
  • Novartis Pharma AG, Basel, Switzerland
  • Novo Nordisk A/S, Bagsvaerd, Denmark
  • Pfizer Limited, Sandwich, Kent , United Kingdom
  • Proqr Therapeutics Nv, Leiden, Netherlands
  • Ptc Therapeutics International Limited, Dublin, Ireland
  • Sanofi-Aventis Recherche & Developpement, Chilly Mazarin, France
  • Takeda Pharmaceuticals International AG, Glattpark-Opfikon (Zurich), Switzerland
Universities, research organisations, public bodies, non-profit groups
  • Bulgarian Association For Personalized Medicine, Sofia, Bulgaria
  • Charite - Universitaetsmedizin Berlin, Berlin, Germany
  • Consorzio Futuro In Ricerca, Ferrara, Italy
  • Copenhagen Business School, Frederiksberg, Denmark
  • Fundacio Centre De Regulacio Genomica, Barcelona, Spain
  • Ludwig Boltzmann Gesellschaft GMBH, Wien, Austria
  • Max-Planck-Gesellschaft Zur Forderung Der Wissenschaften Ev, Munich, Germany
  • Ospedale Pediatrico Bambino Gesu, Rome, Italy
  • S.A Research Gemeinnutzige GMBH, Wien, Austria
  • Syddansk Universitet, Odense, Denmark
  • Universita Degli Studi Di Ferrara, Ferrara, Italy
  • Universita Degli Studi Di Siena, Siena, Italy
  • Universitaet Bern, Bern, Switzerland
  • Universitaetsklinikum Freiburg, Freiburg, Germany
  • Universitaetsmedizin Goettingen - Georg-August-Universitaet Goettingen - Stiftung Oeffentlichen Rechts, Goettingen, Germany
  • Universitatsklinikum Erlangen, Erlangen, Germany
  • University College Dublin, National University Of Ireland, Dublin, Dublin, Ireland
  • Univerzita Karlova, Prague 1, Czech Republic
  • Uppsala Universitet, Uppsala, Sweden
Small and medium-sized enterprises (SMEs) and mid-sized companies (<€500 m turnover)
  • Bulgarian Association For Promotion Of Education And Science, Plovdiv, Bulgaria
  • Eurice European Research And Project Office GMBH, Saarbrücken, Germany
  • Findzebra Aps, Copenhagen NV, Denmark
  • Gnx Data Systems LTD, Tel Aviv, Israel
  • Research Institute AG & Co Kg, Vienna, Austria
  • Sitem-Insel AG, Bern, Switzerland
Patient organisations
  • Eurordis - European Organisation For Rare Diseases Association, Paris, France
Project coordinator
Alessandra Ferlini
Universita Degli Studi Di Ferrara