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

Skopje, North Macedonia

5-7 October, 2023


Associated Professor,
Medical Genetics at Aristotle University of Thessaloniki
Department of Medical Biology and Genetics, Faculty of Medicine, Aristotle University of Thessaloniki,


Dr Alexandros Onoufriadis is Associate Professor of Medical Genetics at Aristotle University of Thessaloniki. Previously, he has worked at British academic institutions (King’s College London and University College London) for 15 years whereby he gained extensive expertise in gene identification strategies and next-generation sequencing technologies. Following the identification of the major gene for Pustular Psoriasis, he embarked on a successful gene hunting endeavour for various rare diseases including Primary Ciliary Dyskinesia, for which he identified a plethora of new genes. He is also investigating the transcriptome of complex diseases to identify key pathways that may provide new treatment options for patients. For his overall contribution to dermatological research, he received the 2021 Early Career Investigator Award by the British Society for Investigative Dermatology.

Presentation title:

Delineating rare diseases using NGS technologies

The abstract book is available for download!