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

Skopje, North Macedonia

5-7 October, 2023


October 05, 2023 (Thursday)

12:30  – 14:30

PharmGenHUB Pre-congress Workshop 


Pharmacogenomics (PGX) aims to individualize therapy upon patients’ unique DNA profiles. IMGGE is a PGX pioneer in the Western Balkans (WB). Through the PharmGenHUB project, IMGGE will become WB’s central place for PGX diagnostics and R&I, education and training, and translation of PGX knowledge into clinically applicable digital solutions. The workshop will present high-throughput DNA sequencing methodology and bioinformatic analyses used in Project realization.

Population pharmacogenomics, 12:30 – 12:50

Branka Zukić, PhD, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia

PharmGenHUB in Western Balkan Project, 12:50 – 13:00

Branka Zukić, PhD, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

25 Years of Pharmacogenetics in N. Macedonia: from research to implementation, 13:00 – 13:30

Acad. Prof. Aleksandar Dimovski, MD, PhD, Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”; Faculty of Pharmacy, University “SS Cyril and Methodius” in Skopje, North Macedonia

Next Generation Sequencing (NGS) Technology, 13:30 – 13:45

Branka Zukić, PhD, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

Bioinformatic preprocessing of NGS data: from raw data to genetic variants, 13:45 – 14:00

Nikola Kotur, PhD, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

Bioinformatics resources in pharmacogenomics research, 14:00 – 14:15

Nikola Kotur, PhD, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

Interpretation of NGS Results: analysis of pharmacogenomics variants, 14:15 – 14:30

Vladimir Gašić, PhD, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

October 05, 2023 (Thursday)

17:30 – 18:00

ELTA 90mm Satellite Symposium

“Introduction to VeriSeq NIPT v2 solution”

Detecting chromosome aberrations beyond trisomies 21, 18, and 13 using genome-wide NIPT – introduction to VeriSeq NIPT v2 solution

Agnieszka Grybos-Gajniak, Illumina

NGS based NIPT provides reliable screening results for fetal chromosomal aneuploidies as early as 10 weeks gestation—from a single tube of maternal blood. This talk will provide introduction to VeriSeq NIPT Solution v2 which takes advantage of powerful Illumina NGS technology to bring a whole-genome sequencing (WGS) approach to NIPT, expanding test menu options to include common aneuploidies (chromosomes 21, 18, and 13), rare autosomal aneuploidies (RAAs), select sex chromosome aneuploidies (SCAs), and partial duplications and deletions ≥ 7 Mb for all autosomes.

October 05, 2023 (Thursday)

19:20 – 19:50

Pfizer Satellite Symposium 

“Genetic aspects of hereditary transthyretin amyloidosis”

Hereditary transthyretin amyloidosis (hATTR) is an adult-onset rare disorder characterized by the accumulation of misfolded amyloid fibrils. It most commonly affects the heart and/or the nerves, though other organs may also be affected. hATTR occurs due to pathogenic missense variants in the TTR gene. The prevalence and disease presentation varies in different regions in the world, with a high concentration of distinct variants in endemic regions. The tremendous advancement in therapeutic options in the last several years makes early and prompt diagnosis of hATTR more important than ever.

Introduction, 19:20 – 19:30

Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Skopje, North Macedonia

The genetics of hereditary transthyretin amyloidosis in Bulgaria, 19:30 – 19:50

Zornitsa Pavlova, IMDL Genome Center Bulgaria, GMDL Genica, Sofia, Bulgaria

October 06, 2023 (Friday)

10:00 – 10:30

CEGAT Satellite symposium 

“Latest advancements in exome diagnostics”

Latest advancements in exome diagnostics

Dr. Dirk Biskup, CeGaT GmbH, Germany

The talk concentrates on the different aspects to obtain the best medical results from exome sequencing and diagnostics. Dr. Dirk Biskup will discuss in depth laboratory aspects such as exome enrichment & sequencing, bioinformatical subtleties, data analysis and medical reporting. Only if all these aspects are optimized and go hand-in-hand, the best diagnostical yield can be obtained.

October 06, 2023 (Friday)

12:30 – 13:00

ELTA 90mm Satellite Symposium

“Advancing cancer care with Comprehensive Genomic Profiling”

Advancing cancer care with Comprehensive Genomic Profiling (CGP)

Agnieszka Grybos-Gajniak, Illumina

Large-cohort studies show that Comprehensive Genomic Profiling maximizes the ability of pathology labs to identify relevant genetic alterations in cancer samples. A single, comprehensive assay to assess a wide range of biomarkers uses less samples and returns results more quickly compared to multiple, iterative tests. This presentation will discuss the importance of CGP and incorporating genomic signatures in clinical care to improve outcomes.

October 06, 2023 (Friday)

14:00 – 14:30

GENESYS BIOPHARMA Satellite Symposium 

“Primary hyperoxaluria type 1: novel siRNA-based treatment options”

Moderator: Velibor Tasic

Pathophysiology and differential diagnosis of PH1

Prof. Velibor Tasic, North Macedonia

Treatment options of PH1 with siRNA gene silencing pathways

Dr. Dimitris Gkikas, Greece

October 06, 2023 (Friday)

16:00 – 16:45

AstraZeneca Satellite Symposium

“Rare genetic diseases – a meeting point between laboratory and clinics”

The symposium “Rare genetic diseases – a meeting point between laboratory and clinics” will provide a vital intersection for experts from both the laboratory and clinical fields to converge and discuss rare genetic diseases such as Neurofibromatosis type 1 (NF1), Lysosomal Acid Lipase Deficiency (LAL D), and Hypophosphatasia (HPP). This symposium will facilitate in-depth conversations on these conditions, emphasizing the crucial collaboration between laboratory diagnostics and clinical practices in understanding, diagnosing, and managing these complex genetic diseases. Attendees can anticipate gaining comprehensive insights into the genetic foundations of these disorders and the pivotal role of laboratory-clinical partnerships in improving patient care and treatment outcomes.

Hypophosphatasia: A Genetic Perspective on Alkaline Phosphatase Deficiency, 16:00 – 16:15

Professor Dr. Goran Cuturilo, Serbia

Attendees will explore the genetic causes behind this rare disorder, shedding light on the mutations responsible for diminished alkaline phosphatase activity. This informative session goes on to dissect the molecular consequences of these genetic aberrations, elucidating how they manifest in the clinical picture of HPP. Additionally, the lecture provides valuable insights into the diagnosis of this complex genetic disorder, offering a holistic understanding of its genetic, molecular, and clinical aspects.

Neurofibromatosis type 1: Clinical Manifestations and Therapeutic Approaches, 16:15 – 16:30

Professor Dr. Ivana Kavecan, Serbia 

Attendees will gain a comprehensive understanding of this genetic disorder. The presentation will delve into the clinical manifestations of Neurofibromatosis Type 1, shedding light on its diverse array of symptoms and associated complications. Furthermore, the audience will be informed about the latest therapeutic approaches and strategies aimed at managing this complex condition, providing valuable insights into both the clinical challenges and potential treatment options for individuals affected by Neurofibromatosis Type 1.

Collaboration of Laboratory Diagnostics and Clinical Genetics in the Context of Pediatric Rare Metabolic Diseases, 16:30 – 16:45

Professor Dr. Ksenija Fumic, Croatia

Attendees will be immersed in the essential synergy between laboratory diagnostics and clinical genetics. This talk elucidates how these two critical domains intersect to address the unique challenges posed by rare metabolic diseases in pediatric patients. Participants will gain insight into the collaborative efforts required to effectively diagnose, ultimately highlighting the vital role played by this interdisciplinary collaboration in improving patient care and outcomes.

October 07, 2023 (Saturday)

12:10 – 12:40

BioMarin Symposium

“Molecular mechanism in the treatment of bone dysplasias”

Molecular mechanism in the treatment of bone dysplasias

Professor Dr. Zoran Gucev, North Macedonia

The era of precision, personalized medicine, often based on novel molecular mechanisms resulted in novel treatments in several bone dysplasia. Indeed, the novel therapies for fibroplasia ossificans progressive, PIK3CA spectrum disorders and achondroplasia are based on the very foundations of those diseases.

The abstract book is available for download!