From October 9 to 11, the picturesque Slovenian town of Bled hosted the 15th Balkan Congress of Human Genetics and the 3rd Alpe-Adria Meeting of Human Genetics.
The conference venue, located at the Rikli Balance Hotel, offered a splendid view of Lake Bled and the towering castle from the meeting room, drawing more than 250 participants from 18 countries. Experts from across the Balkans and Central/Southern Europe, along with leading researchers and institutional representatives, emphasized the meeting’s role as a significant forum for scientific exchange and collaboration in human genetics.
The congress focused on cutting-edge sequencing technologies, rare disease diagnostics, predictive genomics, and the harmonization of practice guidelines across Europe. Its intended impact was to strengthen transregional collaboration and reinforce ERDERA’s strategic role in promoting research and innovation in rare diseases and genomic medicine, ultimately improving diagnosis and therapies for people living with rare conditions.
Workshops and plenary sessions
A highly interactive workshop on the Interpretation of next-generation sequencing (NGS) data opened the event. Led by the local host – Aleš Maver, Clinical Laboratory Scientist and Head of the Centre for Mendelian Genomics at the Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, it underscored ERDERA’s commitment to improving diagnostics through its Clinical Research Network.
Plenary sessions led to thought-provoking lectures on genomics for safer drug prescriptions by William Newman, Professor of Translational Genomic Medicine at the University of Manchester and Clinical Director of the NHS North West Genomic Medicine Service Alliance, and on the use of artificial intelligence and facial recognition in variant interpretation by Milan Macek, Head of Department of Biology and Medical Genetics – National Coordination Centre for Rare Diseases at the Charles University in Prague, working in ERDERA’s diagnostics task force and a member of its Governing Board. They highlighted how advanced 3D facial gestalt digital tools support more accurate and equitable diagnoses by automating the assignment of human phenotype ontologies.
These plenaries were followed by presentations on the clinical utility of highly relevant genomic technologies, including long-read sequencing with PacBio (Bart van der Sanden, Researcher of Genomic Technologies at Radboudumc), nanopore sequencing ( Stephan Ossowski, Professor for Computational and Biomedical Genomics at University of Tübingen and ERDERA’s task leader), and optical genomic mapping (Anja Kovanda, researcher at the Clinical institute of Genomic Medicine in the University Medical Centre Ljubljana). The sessions provided exposure to long-read sequencing technologies (lrGS) as well as optical genome mapping (OGM), showing how these innovations are already reshaping diagnostic pathways for people with rare and complex conditions.
Ensuring underrepresented countries’ participation
Participants from underrepresented countries were provided with tailored information throughout the event. Through capacity-development actions, advocacy, and tailored support, ERDERA targets patients, researchers, and clinicians in these countries, which often lack a critical mass in rare-disease research or policy.
“Although efforts had already commenced in Prague with the Jamboree, attendance at this conference and the opportunity to present lrGS and OGM proved invaluable in generating enthusiasm among participants from underrepresented regions”, said Bart van der Sanden.
The 15th Balkan Congress and 3rd Alpe Adria Meeting contributed to discussions on genomic medicine, rare disease diagnostics, and personalized healthcare. By bringing together experts and innovative technologies, the event strengthened ERDERA’s role in rare disease research, echoing its commitment to a more aligned progress and impact in Europe and beyond. It also aimed to deepen collaboration among Balkan and wider European genetic associations, paving the way for joint initiatives that can accelerate diagnosis and improve treatment options for patients and families facing rare and complex diseases.
Since the event’s wrap-up, use cases for lrGS and OGM have been disseminated, and the first submissions are reportedly being received. We look forward to the next meeting, which will be hosted by our Turkish colleagues in mid-2027.
