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Human genetics issues

The 10th Balkan congress of human genetics and 2nd Alpe Adria meeting on human genetics took place from 10th to 12th October in Bled, Slovenia. Participants from 16 European countries and USA company representatives discussed high-tech achievements in the field of molecular genetics related to the new generation of sequencing the human genome, application of the exomous sequencing in the clinical medical practice and the tools for infuencing genomics for pubic health improvement.

Among the outstanding lectures were the presentation of Prof. Han Brunner form the Department of human genetics in Nijmegen, Netherlands on a topic entitled "How genome sequencing changes medicine" and the presentation of Prof. Gert Matthijs from the Center for Human Genetics in the University of Leuven, Belgium on a topic entitled "Diagnostics in the genomics era – are we ready? ". A satellite simposium in pharmacogenetics was held in order to discusse the acheivments of pharmacogenetics in the developed countries from Europe.

8 participants from Sofia and Varna presented at the congres. Assoc. Prof. Ljudmila Angelova from the Department of pediatrics and medical genetics at Varna Medical University presented a scietific report on biochemistry screening as a new approach to genetics prevention to summarise the 8-year experience of the genetic laboratory in Varna.  Assistant Prof. Dr. Mary Hichmerjan from the same department presented a rare case of triple familial translocation confirmed by molecular cytogenetics (co-authors were colleagues from the University hospital in Linz, Austria).

The team of molecular biolgists from the Genetic and medical diagnostic laboratory "Genetics" in Sofia headed by Assoc. Prof. Albena Todorova received the first award for poster presentation in molecular genetics research in Drave's syndrome. Assoc. Prof. Angelova was a co-author to this team who presented the paper "Molecular diagnostoc of NF1 (neurofibromatosis 1) and NF2 (neurofibromatosis 2) in Bulgaria".           

The Slovenian Society of Medical Genetics was the organiser of the 10th Balkan congress of human genetics and 2nd Alpe Adria meeting on human genetics.