Collaborations
Screen4Care’s consortium is supported by a diverse set of external expertise. Please see the following external collaborators, their organisational background and their roles within Screen4Care in more detail.
Papageorgiou General Hospital
Papageorgiou General Hospital is a non-profit private legal entity fully integrated into the Greek National Health System (NHS). For over 25 years, it has provided comprehensive preventive, diagnostic, therapeutic, and rehabilitation services, delivering primary, secondary, and tertiary healthcare.
The hospital operates 30 clinics, 8 laboratories, 223 outpatient units, and 757 beds, serving more than 280,000 outpatient and emergency visits and over 98,000 hospitalized patients annually. It employs approximately 1,900 staff members and hosts around 500 students each year through its close collaboration with the School of Medicine of Aristotle University of Thessaloniki.
The hospital records approximately 800–900 births annually. In addition, the Neonatal Intensive Care Unit (NICU) admits around 400 newborns each year, the majority of whom are transferred from other hospitals, with approximately half being preterm infants.
Research and innovation are key priorities for Papageorgiou Hospital. In the last 10 years the hospital has successfully implemented more than 20 national and European projects and maintains strong partnerships with hospitals, universities, companies, and research organizations across Europe.
Role
The S4C project at Papageorgiou General Hospital is led jointly by the Genetics, Neonatal, and Fetomaternal Medicine teams. Since joining the project at the end of 2025, the teams have been responsible for participant identification, informed consent, and newborn recruitment. Recruitment is also taking place in three satellite NHS hospitals, which forward Guthrie cards and consent forms to Papageorgiou General Hospital. As the coordinating site, Papageorgiou manages the logistics, sample handling, and study coordination for all participating hospitals in Greece. Project activities are supported by a research fellow employed by the Rare Diseases Greece Association, who assists with study coordination and implementation.
Contact(s)
Athina Ververi
Medical Geneticist, Head of Dept of Genetics for Rare Diseases
University Hospital Brno (FN BRNO)
institutions in the Czech Republic and provides highly specialized as well as general medical care. A particularly prominent role is played by its maternity hospital, which is among the largest and most modern in the country. The obstetrics and neonatology center provides care even for the most of high-risk pregnancies and prematurely born infants. It includes also a top-level perinatology center to which complicated cases from a wide region are referred. The maternity unit is known for its emphasis on safety, modern equipment, and support for natural childbirth. University Hospital Brno also hosts a genetic department focused in clinical genetics and counseling (Institute of medical genetics and genomics), and advanced laboratories providing the molecular genetic and cytogenetic diagnostics and research (within the Center of molecular biology and genetics, dept. of hematology and oncology).
The hospital closely cooperates with the Faculty of Medicine and Central European Institute of Technology of Masaryk University and is involved in training healthcare professionals.
FN Brno, in cooperation with Masaryk university, belongs to the most important biomedical research centers in Czechia as well as central Europe, with many collaborations worldwide.
Role
Collecting DBS. In the event of a positive result, University Hospital Brno, through its Department of Medical Genetics and Genomics, will provide follow-up care and ensure cascade screening within the proband’s family.
Contact(s)
prof. Dr. Sarka Pospisilova, Ph.D.
Head of Institute of Medical Genetics and Genomics, Head of the Centre of molecular biology and genetics (Dept. of hematology and oncology), University Hospital Brno and Masaryk University
GenomeUp SRL
GenomeUp is an innovative company that develops digital solutions to simplify and enhance genetic diagnostics. By transforming complex genomic data into valuable clinical insights, GenomeUp supports healthcare professionals in delivering faster, more accurate diagnoses and improving patient care.
Its main product, JuliaOmix Suite, is a cloud-based software platform designed for the life sciences sector. It streamlines the genetic diagnostic process—from data analysis to clinical reporting—helping bridge the gap between genomic research and everyday medical practice. GenomeUp combines expertise in genomics, bioinformatics, and technology to make personalized medicine more accessible and effective.
Role
As part of the GenomeUp/S4C project, GenomeUp is responsible for integrating genomic data management tools into the Screen4Care system —an advanced digital platform designed to support and optimize newborn screening programs. These programs are vital for the early identification of rare genetic or metabolic conditions, enabling timely treatment and improved long-term outcomes.
GenomeUp’s role focuses on enhancing the accuracy and efficiency of the diagnostic process by providing tools that management genomic data and integrate it into clinical workflows. This contribution helps reduce turnaround times, supports clinicians in decision-making, and ensures that genomic insights are effectively used to guide early interventions. In addition, GenomeUp contributes to the overall system design, prioritizing workflow optimization, data security, and personalized care. By bringing its expertise in genomics and digital health solutions, GenomeUp plays a key role in making newborn screening more precise, responsive, and impactful.
Contact(s)
Simone Gardini
CEO & Co-Founder
Osservatorio Malattie Rare (OMaR)
Founded in 2010 by Ilaria Ciancaleoni Bartoli, OMaR is the first online journal in Italy entirely dedicated to rare diseases and rare cancers. It provides in-depth articles, interviews, and news on research, treatments, policies, and patient advocacy. OMaR collaborates with institutions, researchers, and patient associations to enhance awareness and access to care for people living with rare conditions.
Role
Osservatorio Malattie Rare (OMaR) is an official collaborator and media partner of S4C, with the goal of raising awareness in Italy about the project’s activities. OMaR informs the public, healthcare professionals, and policymakers on the potential benefits of genetic neonatal screening and its impact on rare disease diagnosis.
As part of this collaboration, OMaR participated in the S4C Project Meeting in Copenhagen (April 2024), reporting on project developments and fostering dialogue among stakeholders. Through its communication efforts, OMaR supports informed decision-making and contributes to the advancement of neonatal screening policies.
Contact(s)
Alessandra Babetto
Journalist