Rare diseases in Europe: Pioneering a new era through research, innovation, and advanced training, with the launch of the first European academic degree for research on rare disease

Rare diseases, which affect 30 million people across Europe, are entering a new phase in diagnosis and treatment. Key initiatives include the creation of a European registry dedicated to rare diseases and the launch of Europe’s first postgraduate specialization program with academic credit recognition (a second-level master’s degree). This joint degree, offered in collaboration with various European universities, aims to train professionals with expertise in rare disease research.

        

The team is coordinated by Professor Wanda Lattanzi, Associate Professor of Cellular and Applied Biology at the Department of Life Sciences and Public Health at the Catholic University and medical geneticist consultant at the Pediatric Neurosurgery Unit of Policlinico Gemelli. The team includes Professor Ornella Parolini, Full Professor of Cellular and Applied Biology and Director of the Research Biobank, Professor Alessandro Arcovito, Associate Professor of Biochemistry, Professor Giuseppe Zampino, Associate Professor of General and Specialized Pediatrics and Head of the Rare Diseases Center, researcher Dr. Lorena Di Pietro, and Laura Motta, the administrative officer from the Research Office.   Plus a strong support by the teams from the Academic Planning, Educational Offer, and International Office.

ERDERA, funded with €380 million under Horizon IHI, is a major 7-year project that involves 178 institutions across 37 countries (26 EU member states, 8 associated countries, and 3 non-EU countries). The consortium includes universities, clinical centers, public administrations, research organizations, patient associations, research infrastructures, and industry partners.

 Professor Lattanzi serves as the scientific coordinator for the Università Cattolica, leading efforts in “training and education” to develop academic programs in collaboration with other European universities. These programs aim to train new professionals in rare disease research.

Rare Diseases: A Global Challenge

Globally, up to 5% of the population is affected by rare diseases. In Italy alone, approximately 2 million people suffer from rare diseases, 70% of whom are pediatric patients, according to Orphanet Italia. While around 10,000 rare diseases are currently known and diagnosed, the actual number continues to rise as research advances. Approximately 72% of rare diseases have a genetic origin, while the remainder are linked to infections, allergies, environmental factors, or rare cancers.

About ERDERA

ERDERA was officially launched on September 1, 2024, and will be presented at a two-day event in Paris at INSERM. The alliance’s overarching goal is to improve the health and well-being of the 30 million Europeans affected by rare diseases. ERDERA aims to make Europe a global leader in rare disease research and innovation by enhancing prevention, diagnosis, and treatment strategies.

The program supports the European Union’s commitment to the United Nations 2030 Agenda for Sustainable Development Goals (SDG 3: Good Health and Well-being, and SDG 10: Reduced Inequalities). ERDERA will foster a multi-stakeholder research ecosystem, driving patient-centered research, sharing of health and research data, and promoting digital transformation in research and innovation.

One of ERDERA’s major objectives is to ensure that every willing rare disease patient can be identified and enrolled in suitable clinical trials. By promoting data generation and sharing, ERDERA aims to accelerate progress in understanding, diagnosing, preventing, and treating rare diseases.

Università Cattolica’s Role in ERDERA

The Università Cattolica is a key beneficiary of ERDERA, contributing to Work Package 20, which focuses on “education and training” initiatives. The overarching aim is to create a comprehensive education and training program for rare disease research professionals. The program will address the needs of the research community at all career stages and engage a broader multi-stakeholder group, including patients, healthcare providers, industry representatives, and governmental bodies.

Professor Lattanzi concludes:
“Europe currently lacks a professional profile specialized in rare diseases, with the capacity to manage the evolving tools and technologies in basic, translational, and clinical research. In addition to technical skills, these professionals must possess multidisciplinary expertise, enabling innovation and technology transfer, and strong communication abilities for scientific dissemination and patient engagement. Educational resources for rare disease research professionals remain fragmented across EU countries, resulting in inconsistent professional profiles. ERDERA aims to standardize training objectives and teaching methods across academic and research institutions, culminating in a formalized joint degree recognized by participating European universities.”

 

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