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.
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