The Government remains committed to supporting the local scientific and innovation ecosystem so that scientific progress continues to translate into tangible benefits for patients, said the Deputy Minister of Research, Innovation and Digital Policy, Dr Nicodemos Damianou, in his opening speech at the ‘Advancement of Treatments for Rare Diseases’ conference, held on Tuesday at the Cyprus Institute of Neurology and Genetics (CING) in Nicosia.
In a recorded video message, the European Commissioner for Health and Animal Welfare Commissioner, Olivér Várhelyi, said that the Commission supports the European reference networks, connecting specialised centres so expertise reaches patients wherever they live. Speeches were also delivered by CING’s Chief Executive Officer and Medical Director, Leonidas Phylactou and President of CING’s Board of Directors Michael Komodromos.
In his speech on behalf of the President of the Republic, Damianou said that rare diseases -often underdiagnosed or overlooked- may be uncommon individually, but together they shape the lives of millions, as today, over 6,000 to 8,000 distinct conditions have been identified. ‘In the EU a rare disease is one that affects no more than 5 people in 10,000 – but collectively these conditions affect more than 30 million people in Europe alone, showing that uncommonness does not mean insignificance’, he said.
He added that despite advances in science, fewer than 1,000 rare diseases benefit from even a minimal level of scientific understanding, and around 95% still have no approved treatment, the molecular basis of many of these conditions remains only partially understood, with the underlying genetic, biochemical, and cellular mechanisms yet to be fully elucidated.
Data on rare diseases are fragmented, access to advanced diagnostics is uneven, and clinical trials remain difficult to organise due to small and diverse patient populations, continued Damianou, adding that for many patients, the path to an accurate diagnosis can take four to five years in the EU and even longer in other parts of the world, with common symptoms sometimes masking rare conditions and leading to misdiagnosis or delayed care.
He added that at the same time, we are living in a period of rapid scientific and technological transformation. Advances in genomics, data science, high-performance computing, and Artificial Intelligence are reshaping how we understand, identify and provide solutions and treatments to complex and rare conditions.
‘Multidisciplinary medical and technologically driven research, particularly in the context of the technological advances that Artificial Intelligence brings, can significantly help address these persistent challenges. Our goal: Deepen our understanding of rare diseases and accelerate the development of new diagnostics and therapies, in order to shorten diagnostic journeys and reduce the long-term burden on patients, families, and healthcare systems. Progress will not come in isolation. It requires coordinated action, bringing together technology, data, policy, and cross-border collaboration to create lasting impact’, noted the Deputy Minister.
AI matters not because of headline economic forecasts, but because it can help leverage all of those components, connect the dots, integrate fragmented data, shorten data-based diagnosis, and optimize clinical trial design and drug discovery, he said, adding that rare disease research outcomes require robust data ecosystems, interoperable infrastructures, secure data-sharing frameworks, but it also requires alignment between research funding, clinical practice, and industrial innovation as well as regulatory clarity and cross-border, regional collaboration.
He added that across Europe, important steps are being taken in that respect, as trough Horizon Europe funding, the European Reference Networks, and the European Health Data Space, Europe is building a more integrated and data-driven ecosystem for research and care, while the European Health Data Space is addressing long-standing fragmentation by enabling the secure secondary use of health data for research, innovation, policy-making and regulatory activities within a harmonised legal and technical framework, across Europe.
At the same time, ERDERA – a partnership under Horizon Europe-is uniting hundreds of partners across Europe to coordinate rare disease research and develop shared data infrastructures and AI-enabled tools, with the goal of accelerating diagnosis and improving clinical outcomes, he noted, while complementing this, the European Reference Networks connect specialised centres across countries, ensuring that complex cases can benefit from shared expertise and increasingly from advanced digital and AI-supported decision tools.
‘These initiatives, together with many others outlined in the European Union’s Strategy ‘Choose Europe for life sciences, adopted in July 2025, advance research excellence, data-driven innovation, and the translation of scientific advances into tangible health impact. The question before us, therefore, is not whether the tools exist. The real question is how we deploy them – efficiently, safely and equitably – across all Member States, to maximize impact. And of course, how we retain here in Europe our top scientific talent’, he further noted.
‘For Cyprus, health is a strategic priority within our National Research and Innovation Strategy. We strongly believe that rare diseases represent an area where scientific excellence and technological capability can converge to deliver meaningful impact for patients and societies as a whole. Our approach is pragmatic and results-oriented, creating the right conditions for a stronger, patient-centred system; one that enhances national diagnostic capacity, accelerates access to cutting-edge therapies and care, and continuously strengthens cross-border collaboration’, stressed Damianou.
To that end, he continued, the government is pursuing concrete actions at national level, while deepening its integration within European networks and initiatives, including strengthening national diagnostic and therapy capacity by leveraging advanced genomic tools to enable rapid, accurate identification and therapy of rare and complex diseases, biobanking capacity and secure data-sharing frameworks aligned with European standards and linked with European partners, active participation in European research programmes and partnerships, including ERDERA, to accelerate diagnostics, therapies and research in rare diseases, and strong engagement in European Reference Networks, ensuring access to Europe-wide expertise.
He added that in parallel, the government is focusing on digital health foundations – including secure health data infrastructures and the gradual development of interoperable patient-centred systems, and to that end, leveraging AI to support AI-enabled health solutions remains central to our approach. ‘In the context of our National AI Strategy -currently in its final drafting stages- health has been identified as a key priority where Cyprus should leverage AI to enhance our scientific and research capacity, deliver tangible benefits for citizens and strengthen the healthcare system’, he explained.
‘Due to its size, agile governance structure, and strong scientific base, Cyprus offers a conducive environment for piloting innovative solutions in areas such as rare disease diagnostics, digital health tools, and AI-supported research. This allows research and innovation efforts to move more efficiently from early-stage development to real-world validation, within a framework that remains fully aligned with European regulatory standards and safeguards’, said the Deputy Minister.
He added that this is currently being deployed by the German Medical Institute specifically for AI-based solutions, through government co-funded projects like Agora 3.0, in the sector of personalized oncology, and can be similarly extended to rare diseases, while contributing to positioning Cyprus as a credible and active contributor to Europe’s rare disease agenda, the local scientific and innovation ecosystem, particularly the Cyprus Institute of Neurology and Genetics, but also other stakeholders such as the biobank.cy Center of Excellence, as well as the Karaiskakio Foundation, play a critical role through their activities, expertise, international partnerships, and commitment to excellence.
‘The Government remains committed to supporting this ecosystem so that scientific progress continues to translate into tangible benefits for patients. Our shared objective is clear: to shorten the path from discovery to diagnosis, from diagnosis to treatment, and from treatment to measurable improvement in patients’ lives. Rare disease research reminds us that innovation is most meaningful when it serves those with the fewest alternatives. Our responsibility is to ensure that this scientific progress translates into accessible, affordable, and scalable solutions’, he concluded.
In a recorded video message, the European Commissioner for Health and Animal Welfare Commissioner, Olivér Várhelyi, said that the Commission supports the European reference networks, connecting specialised centres so expertise reaches patients wherever they live.
‘We must now better integrate these networks into national health systems. Research in rare diseases must also be scaled across borders, as this knowledge is often scarce and fragmented. The European health data space is key for the secure use of non-personalised health data for research. In 2026, we will take the next steps to make this a reality’, he continued.
He added that to support the development of medicines to treat rare diseases, the European Commission has just finished revising the EU’s pharmaceutical legislation. ‘We are modernising how medicines are approved, also to support the so-called platform technologies. These therapies can be tailored to individuals or small groups, particularly important for rare disease patients. Breakthrough therapies for rare diseases that lack treatment options will be rewarded with 11 years of market exclusivity, making investment more attractive’, he explained.
On the Critical Medicines Act, the Commissioner said that the negotiations now move swiftly to improve the availability and accessibility of medicines, including those for rare diseases.
‘With our December health package, we are strengthening Europe’s rare disease ecosystem. We propose the Biotech Act, as biotechnology is vital for rare diseases. It allows us to target root causes through gene and cell therapies and personalised treatments for small patient groups’, he said.
He added that the Biotech Act speeds up the authorisation of multinational clinical trials and facilitates clinical trials around in vitro diagnostic testing, while the Commission is simplifying the medical device framework, cutting red tape while upholding the highest safety standards.
‘It introduces dedicated pathways for orphan devices for rare diseases, speeding up access to life-changing technologies. I am confident we will see swift progress on our proposals and can count on the Cypriot Presidency. I wish you the best for a fruitful conference’, he concluded.
CING’s Chief Executive Officer and Medical Director, Leonidas Phylactou, said in his speech that it is a great honour for Cyprus to host this conference, highlighting the country’s active role in health and research and underscoring its contribution to the European dialogue on rare diseases, most of which still lack definitive treatments, and many of which remain undiagnosed for prolonged periods of time.
‘Within the framework of the Cyprus Presidency of the Council of the European Union, this meeting gains additional significance, offering an important platform for dialogue, policy reflection, and strengthened European cooperation. The conference is funded by the European Union through the Horizon Europe Framework Programme, demonstrating Europe’s commitment to supporting collaborative research and accelerating progress in the field of rare diseases’, he continued.
He added that rare diseases inherently require a multidisciplinary and cross-sectoral response. Progress becomes possible when scientists, clinicians, policymakers, industry, patient organisations, and experts across complementary fields work together with a shared purpose. In this respect, your presence here today already represents a meaningful step forward.
‘Our aim is not only to exchange knowledge, but also to reflect together on the current European landscape and help shape realistic priorities for the future. We hope that this conference will act as a catalyst – strengthening existing collaborations, creating new partnerships, and supporting European initiatives capable of delivering tangible impact for patients and their families’, he further said.
‘For more than 35 years, the Cyprus Institute of Neurology and Genetics has served as a central pillar for rare neurological and genetic diseases in our country. As a National Centre of Excellence and active participant in European Reference Networks and major research programmes, we remain committed to advancing diagnostics, research programs, and meaningful collaboration across Europe. Our objective is the active participation of Cyprus in shaping European developments in the life sciences, contributing substantially to improving the quality of life of patients with rare diseases. Today, by bringing together knowledge, experience, and perspectives, we strengthen our collective effort and create the conditions for meaningful progress for people living with rare diseases’, he concluded.
For his part, the President of CING’s Board of Directors Michael Komodromos, said that hosting experts from across Europe and beyond during the Cyprus Presidency of the Council of the European Union highlights Cyprus’ role as an active contributor to the European research landscape and to the collective effort to improve the lives of patients with rare diseases.
‘The challenges in rare disease research are significant: small patient populations, complex biology, and the need for sustained resources. Yet these challenges also drive innovation and encourage us to work together in ways that accelerate discovery. I am confident that the discussions and partnerships formed here will bring us closer to new treatments, improved diagnostics, and better care’, he noted.