Welcome to the 14th Balkan Congress of Human Genetics
and 9th Rare Disease SEE Meeting

Skopje, North Macedonia

5-7 October, 2023


Clinical Institute of Genomic Medicine | UMC Ljubljana
Ljubljana, Slovenia


The principal focus of my work is the field of rare and complex human disease genetics. Principally, I have been involved in the application of high-throughput sequencing approaches for clinical diagnostics and research. Currently, my work is focused on diagnostics based on exome, genome and RNA sequencing. I am particularly enthusiastic about implementing novel approaches to improve genome-level clinical variant interpretation, create resources of national variation and to increase use of data sharing to facilitate the diagnosis of rare genetic disorders.

Presentation title: The challenging path to diagnosis in human monogenic disorders – lessons from exome and genome sequencing in over 10,000 individuals

The abstract book is available for download!