Great performance by geneticists from “Heart and Brain” at European science forums
Medical genetics specialists from Heart and Brain, led by Assoc. Prof. Elitsa Becheva-Kraychir, gave an outstanding presentation at the annual conference of the European Society of Human Genetics (ESHG). It took place from May 24 to 27 at AlianzMiCo – Milan Convention Center, one of the largest congress centers in the heart of Milan. More than 5,600 participants from over 90 countries took part in the large-scale event. The Medical Genetics Laboratory participated in the conference with three posters based on the results of the hospital’s molecular genetics and cytogenetics laboratories and medical-genetic consultations by specialists.
Dr. Lilia Nikolova-Georgieva presented a clinical case of severe congenital transfusion-dependent hemolytic anemia resulting from a newly detected homozygous deletion in the PKLR gene. The poster by Dr. Todor Vassilev describes an inherited Alagille syndrome in a patient with a predisposition to NEXN-associated cardiomyopathy. The third poster, presented by Dr. Petya Angelova, is the result of the work of the cytogenetic laboratory and describes a rare hereditary chromosomal aberration in chromosome 11 affecting relatives from three generations.
Dr. Natalia Todorova joined the course “Clinical Genomics and NGS” at the University Residential Center of Bertinoro at the University of Bologna just days before. The course program included lectures by leading experts in the field of genetics and bioinformatics, followed by afternoon workshops. The clinically oriented seminars with an interactive discussion format and the bioinformatics seminars with practical exercises in the analysis and interpretation of biological data complemented the excellent theoretical training provided by the lectures.
“By presenting at major European forums, our specialists demonstrate their extensive clinical experience in identifying rare and complex genetic syndromes, the early detection of which could be of paramount importance for the appropriate selection and timely initiation of treatment for our patients,” said Assoc. Prof. Kraichir, head of the genetic laboratory.
