The 15th Balkan Congress of Human Genetics alongside the 3rd Alpe Adria Meeting of Human Genetics will be hosted at the picturesque Rikli Balance Hotel in Bled, Slovenia, from 9 to 11 October 2025. This highly anticipated gathering brings together leading scientists and clinicians across Europe to exchange breakthroughs in genomic medicine, particularly in technologies for sequencing genomes and transcriptomes. The conference will spotlight efforts to harmonise European guidelines and services in clinical genetics, as well as the expanding scope of predictive genomics.
Participants will share their work through invited lectures, short presentations, and posters on a variety of themes—including genomic medicine, rare disease genetics and treatment, clinical and reproductive genetics, pharmacogenomics, oncogenetics, population genetics, neurogenetics, immunogenetics, and more. It promises to elevate diagnostic approaches throughout the region and foster meaningful collaboration across borders.
ERDERA’s key contributions: Speakers to watch
ERDERA, the European Rare Disease Research Alliance, will play a prominent role in the congress, with distinguished representatives delivering lectures in both the plenary and scientific sessions.
Prof. Milan Macek Jr., MD, DSc (Czech Republic)
Opening the conference, Prof. Macek will deliver the Plenary Lecture, titled “Advances in Rare Disease Genetics”. As a task leader in ERDERA diagnostics task force and member of its governance board, Prof. Macek brings a wealth of expertise in rare disease research and European collaborative initiatives. His address is expected to frame critical innovations and policy-direction in rare disease diagnostics.
Dr. Bart van der Sanden, PhD (Netherlands)
Scheduled in Session 1: Advances in Rare Disease Diagnostics, Bart will present “Long-read Sequencing for Rare Disease Research and Diagnostics”. Based in Prof. Alexander Hoischen’s team at Radboud University Medical Center, Bart is deeply involved in ERDERA’s diagnostics task force. His work emphasises how long-read, high-fidelity sequencing approaches can uncover complex genetic variants—such as structural variants and repeat expansions—that often elude standard testing.
Prof. Stephan Ossowski, PhD (Germany)
Also featured in Session 1, Prof. Ossowski will speak on “ONT (Oxford Nanopore Technologies) Sequencing”. A task leader for ERDERA’s from the University of Tübingen, his presentation is geared toward showcasing the potential of ONT platforms to solve previously unresolved rare disease cases through scalable, real-time sequencing.
Why ERDERA’s participation matters
- Innovative Diagnostics: The focus on long-read technologies—including PacBio HiFi and ONT sequencing—offers new avenues for diagnosing elusive rare disease cases by capturing complex genetic alterations that short-read methods often miss.
- Comprehensive Genomic Approaches: Highlighted by studies like the “1,000 genomes project,” these tools showcase how a single, integrated test could transform rare disease investigation on a large scale.
- European Collaboration and Representation: ERDERA’s speakers exemplify pan-European teamwork, featuring experts from underrepresented regions and reinforcing the alliance’s commitment to inclusivity across the conference’s reach.
Find out more about the event and the programme here.
