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

Skopje, North Macedonia

5-7 October, 2023

Scientific program

14th Balkan Congress of Human Genetics

& 9th Rare Disease SEE Meeting

October 05 – 07, 2023

Hotel Double Tree by Hilton, Skopje


“Genetic Diseases – from Diagnostics to Prevention and Therapy”

October 05, 2023 (Thursday)


10:00  Registration open
12:30 – 14:30

PharmGenHUB Pre-congress Workshop 


14:30 – 15:00 Coffee break
15:00 – 15:30

Conference Opening / Welcome

Speakers:   Fatmir Mexhiti, Ministry of Health

Kalina Stardelova, President of Medical Chamber

Dijana Plaseska-Karanfilska, President of the Macedonian Society of Human Genetics, and President of the Organizing Committee

Zoran Gucev, President of the Macedonian Society of Rare Diseases

Vesna Aleksovska, Life with Challenges (Patients’ organization)

Elizabeta Gjorgievska, First Lady of North Macedonia                 

Plenary lectures

Chairs: Dijana Plaseska-Karanfilska, North Macedonia; Aleksandar Dimovski, North Macedonia 

15:30 – 16:00

PL-1. Han Brunner, The Netherlands

Why we have the disorders we have

16:00 – 16:30

PL-2. Detlef Bockenhauer, Belgium

Diagnosis of uncertain significance: the challenge of genetic variant interpretation

16:30 – 17:00

PL-3. Borut Peterlin, Slovenia

From rare diseases to Public Health Genomics: a health system perspective

17:00 – 17:30 Coffee break / Poster viewing
17:30 – 18:00

ELTA 90mm Satellite Symposium

“Introduction to VeriSeq NIPT v2 solution”

Session 1: Reproductive genetics I

Chairs: Han Brunner, The Netherlands; Velibor Tasic, North Macedonia

18:10 – 18:30

IL-1. Svetlana Madjunkova, Canada

The Art of ART: Preimplantation genetic testing as a treatment of genetic conditions

18:30 – 18:50

IL-2. Maria Syrrou, Greece

Genetic and epigenetic signatures in low birth weight neonates and future health risks

18:50 – 19:10

IL-3. Savina Hadzidekova, Bulgaria

It’s time for extensive reproductive carrier screening

19:20 – 19:50

Pfizer Satellite Symposium 

“Genetic aspects of hereditary transthyretin amyloidosis”

20:00 – 22:00 Get together party

October 06, 2023 (Friday)


Session 2: Rare diseases/Novel treatments

Chairs: Stojka Fustic, North Macedonia; Danijela Radivojevic, Serbia

08:30 – 08:50

IL-4. Stattermayer Albert Friedrich, Austria

Synonymous and non-coding adenosine triphosphatase copper-transporting beta (ATP7B) variants of potential disease relevance in patients with clinical diagnosis of Wilson disease

08:50 – 09:10

IL-5. Stojka Fustic, North Macedonia

Cystic fibrosis in the era of highly effective CFTR modulators

09:10 – 09:30

IL-6. Ioana Streata, Romania

Romanian activities within European Reference Networks for Rare Diseases

Selected oral presentations 

09:30 – 09:40

OP-1. Anita Skakic, Serbia

Phenylbutyric acid reduces molecular markers of ER stress-induced apoptosis in glycogen storage disease type Ib in vitro model system

09:40 – 09:50

OP-2. Milos Brkusanin, Serbia

Outcome of a Serbian pilot initiative: spinal muscular atrophy newborn screening over a 16-month period  

10:00 – 10:30

CeGaT Satellite symposium 

“Latest advancements in exome diagnostics”

10:30 – 11:00 Coffee break / Poster viewing

Session 3: Diagnosing rare diseases using NGS

Chairs: Borut Peterlin, Slovenia; Emilija Sukarova Stefanovska, North Macedonia

11:00 – 11:20

IL-7. Maja Stojiljkovic, Serbia

The impact of next-generation sequencing on diagnosis and treatment of rare diseases

11:20 – 11:40

IL-8. Alexandros Onoufriadis, Greece

Delineating rare diseases using NGS technologies

11:40 – 12:00

IL-9. Alesh Maver, Slovenia

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

Selected oral presentations 

12:00 – 12:10

OP-3. Engin Atli, Turkey

MtDNA NGS results in mitochondrial disorders of Trakya University 

12:10 – 12:20

OP-4. Meri Kirijas, North Macedonia

Diagnostic utility of next-generation sequencing gene panel in the diagnosis of systemic autoinflammatory diseases

12:30 – 13:00

ELTA 90mm Satellite Symposium

“Advancing cancer care with Comprehensive Genomic Profiling”

13:00 – 14:00 Lunch 
14:00 – 14:30

GENESIS BIOPHARMA Satellite Symposium 

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

Session 4: Cancer genetics

Chairs: Nadica Matevska-Geskovska, North Macedonia; Ljiljana Sherman, Croatia

14:40 – 15:00

IL-10. Mehmet Ali Ergun, Turkey

Role of Next Generation Sequencing Analysis (NGS) Tests in Breast Cancer

15:00 – 15:20

IL-11. Ljiljana Sherman, Croatia

Cancer genetic counselling-a psychotherapist’s approach

Selected oral presentations 

15:20 – 15:30

OP-5. Rijad Konjhodžić, Bosnia and Herzegovina

Evaluation of mitochondrial mononucleotide repeat (D310) in the D-Loop region in Bosnia and Herzegovina colorectal cancer and polyposis patients

15:30 – 16:00 Coffee break / Poster viewing
16:00 – 16:45

AstraZeneca Satellite Symposium

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

16:55 – 17:55

Parallel poster sessions 1 to 3 

Poster sessions 1. Rare Diseases/Population genetics/Genetic technologies (MONITOR 1)

             Moderator: Alesh Maver, Slovenia

             Posters PP-1 to PP-13

Poster sessions 2. Rare Diseases /Neurogenetics (MONITOR 2)

             Moderator: Slavica Trajkova, Italy

             Posters PP-14 to PP-26

Poster sessions 3. Cancer genetics/Other topics (MONITOR 3)

             Moderator: Rijad Konjhodžić, Bosnia and Herzegovina

             Posters PP-27 to PP-39

Session 5: Reproductive genetics II

Chairs: Luca Lovrecic, Slovenia; Olivera Miljanovic, Montenegro 

18:00 – 18:20

IL-12. Olivera Miljanovic, Montenegro

Maternal folate metabolism gene polymorphisms and risk of aneuploidy

18:20 – 18:40

IL-13. Merita Xhetani, Albania

Genetic testing of miscarriages using a QF-PCR and MLPA strategy: 2 years experience from Albania

Selected oral presentations

18:40 – 18:50

OP-6. Marija Volk, Slovenia

PGT in Slovenia: a 20-year experience in a national health system

18:50 – 19:00

OP-7. Leyla Ozer, Turkey

The value of prenatal exome sequencing in cases with abnormal fetal ultrasonographic findings: a report of 25 cases

19:00 – 19:10

OP-8. Marija Terzikj, North Macedonia

The role of the complex CPLANE1c.1819delT;7817T>A allele in early pregnancy loss

October 07, 2023 (Saturday)

Session 6: Neurogenetics

Chairs: Sena Karachanak-Yankova, Bulgaria; Elena Sukarova Angelovska, North Macedonia 

08:30 – 08:50

IL-14. Slavica Trajkova, Italy

Gene discovery and precision medicine in neurodevelopmental disorders using “episignatures”

08:50 – 09:10

IL-15. Sena Karachanak-Yankova, Bulgaria

Genetic profile of Alzheimer’s disease, frontotemporal and unspecified dementia based on pooled whole exome and whole genome data

Selected oral presentations

09:10 – 09:20

OP-9. Dijana Perovic, Serbia

Clinical significance of X chromosome copy number variations 

09:20 – 09:30

OP-10. Ivana Maleva Kostovska, North Macedonia

Genetic landscape in epilepsy related disorders

Session 7: National activities: Medical genetics/Rare diseases

Chairs: Ioana Streata, Romania; Aleksandar Petlichkovski, North Macedonia

09:40 – 10:00

IL-16. Danijela Radivojevic, Serbia

The role and significance of the laboratory of medical genetics within hospital – Serbian experience

10:00 – 10:20

IL-17. Luca Lovrecic, Slovenia

Innovative approach towards the national rare disease management – Slovenian National Plan

10:20 – 10:40

IL-18. Florin Burada, Romania

The research and diagnostic activities of the Romanian Network of Medical Genetics – focus on RCMG Dolj 

10:40 – 11:10 Coffee break / Poster viewing

Session 8: Genetic & Omics Technologies

Chairs: Alesh Maver, Slovenia; Tihomir Todorov, Bulgaria

11:10 – 11:30

IL-19. Katarina Davalieva, North Macedonia

Functional proteomics investigation of biomarkers and molecular pathways of infertility

Selected oral presentations

11:30 – 11:40

OP-11. Tihomir Todorov, Bulgaria

The key role of clinical description in determining the system approach for genetic testing

11:40 – 11:50

OP-12. Ivana Babic Bozovic, Slovenia 

Comprehensive genetic evaluation of ataxia: experience of a Slovenian tertiary centre 

11:50 – 12:00

OP-13. Anja  Kovanda, Slovenia

Value of optical genome mapping for diagnostics of rare diseases

12:10 – 12:40

BioMarin Satellite symposium 

“Molecular mechanism in the treatment of bone dysplasias”

12:40 – 13:40

Parallel poster sessions 4 to 6

Poster sessions 4. Rare Diseases (MONITOR 1)

             Moderator: Goran Cuturilo, Serbia

             Posters PP-40 to PP-52

Poster sessions 5. Reproductive genetics (MONITOR 2)

             Moderator: Savina Hadzidekova, Bulgaria

              Posters PP-53 to PP-64

Poster sessions 6. Personalized medicine/Pharmacogenomics/Immunogenetics/Other topics (MONITOR 3) 

             Moderator: Meri Kirijas, North Macedonia

             Posters PP-65 to PP-76

13:40 – 14:20 Coffee break  and Snacks

Session 9: Case reports

Chairs: Hakan Gurkan, Turkey; Velibor Tasic, North Macedonia

14:20 – 14:25

OP/CR-1. Hatice Kocak Eker, Turkey

SETBP1 c.2608G>A (G870S) variant in a Syrian patient with Schinzel-Giedion syndrome: An illustrative case

14:25 – 14:30

OP/CR-2. Zeynep Munteha Baser, Turkey

A novel TIMM8A mutation in a Turkish patient with ultra rare Mohr-Tranebjaerg syndrome

14:30 – 14:35

OP/CR-3. Nikola Gjorgjievski, North Macedonia

Fabry disease “AD ASTRA PER ASPERA”

14:35 – 14:40

OP/CR-4. Betül Kesriklioğlu, Turkey 

A Case Report of Donnai Barrow Syndrome: First Gross Deletion Mutation in LRP2 Gene

14:40 – 14:45

OP/CR-5. Aleksandra Janchevska, North Macedonia

Follow-up of a boy with a CBL-related disorder and growth hormone deficiency

14:45 – 14:50

OP/CR-6. Levent Simsek, Turkey

TERF1: a novel candidate gene for dyskeratosis congenita

14:50 – 14:55

OP/CR-7. Katerina Kubelka-Sabit, North Macedonia

Twin monozygotic early normal and complete molar pregnancy 

15:00 – 15:15 Closing 


Updated Program


October 06, 2023 (Friday)

16:55 – 17:55

Poster sessions 1. Rare Diseases/Population genetics/Genetic technologies (MONITOR 1)

             Moderator: Alesh Maver, Slovenia

             Posters PP-1 to PP-13

PP-01. Aleksandra Divac Rankov, et al., Serbia

Strengthening the Next-Generation Sequencing and Bioinformatics Capacities in the Republic of Serbia


PP-02. Predrag Noveski, et al., North Macedonia 

Using Exome Data from Clinical Genetic Testing to Inform for Population Carrier Status of Pathogenic Variants in Recessive Monogenic Diseases: A Single Center Report


PP-03. Besmira Basholli, et al. Albania

Molecular Diagnoses in the Genetics Laboratory Service with the SeqStudio Genetic Analyzer


PP-04. Ivana Čeko, et al., Bosnia and Herzegovina

Advancements in Parallel Clinical Exome Sequencing: A Comprehensive Analysis of Its Role in Rare Diseases Diagnostics Over a 24-Month Period


PP-05. Hazal Sezginer Guler, et al., Turkey

Frequencies of Likely Pathogenic and Pathogenic Variants in the Thrace Region: A Single Center Experience


PP-06. Jelena Kusic-Tisma,ey al., Serbia

Potential New Genes Involved in Cystic Fibrosis Phenotype


PP-07. Zvezdana Petronijević, North Macedonia

Bardet-Biedl Syndrome – a rare case with hearing loss


PP-08. Volkan Sönmez, et al., Turkey

Retrospective Evaluation of Genes Related to Fatty Acid Oxidation Defects from Whole-Exome Sequencing (WES) Analysis with Current Data


PP-09. Milica Pesevska, et al., North Macedonia

Evaluation of Neonatal Screening for Phenylketonuria in North Macedonia – Pilot Study


PP-10. Canan Ceylan Köse, et al. Turkey 

Compound Heterozygous DCHR24 Gene Variants in Desmosterolosis: A Case Report with Developmental Delay and Corpus Callosum Agenesis


PP-11. Derya Kaya, et al. Turkey 

A Case Report of a Patient with Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements: A Novel Biallelic Variant in ZNF142 Gene


PP-12. Sümeyye Kara, et al. Turkey 

A Familial RETT Syndrome Case with Deletion and Insertion in MECP2 Gene


PP-13. Ayşe Tekin, et al., Turkey

A Case with Spinocerebellar Ataxia Type 10


October 06, 2023 (Friday)

16:55 – 17:55

Poster sessions 2. Rare Diseases /Neurogenetics (MONITOR 2)

             Moderator: Slavica Trajkova, Italy

             Posters PP-14 to PP-26

PP-14. Biljana Spremo-Potparević et al., Serbia

New Aproach in Quantitive Estimation of X Chromosome Centromer Instabulity in Alchimer Disease


PP-15. Milica Pešić et al., Serbia

TREM2 R47H as a Risk Factor for Alzheimer’s Disease in Serbian Patient


PP-16. Nina Maric, et al., Bosnia and Herzegovina 

Artrogryposis as a Rare Presentation of Noonan Syndrome type 2? The Chalenging of Genetic Variants of Uncertain Significance in Clinical Practice 


PP-17. Bahriye Öykü Candan, et al., Turkey

Investigation of SHOX Gene Mutations


PP-18. Sara Veleska, et al., North Macedonia

Application of array CGH in Detection of Marker Chromosome- a Case Report


PP-19. Drenushe Zhuri, et al., Turkey 

Clinical Significance of Microdeletions and Epigenetic Modifications on Chromosome 11p15.5 in Prenatal and Postnatal Diagnosis

PP-20. Diyar Sayit, Filiz Ozen, Turkey 

Leri-Weill Dyschondrosteosis Syndrome, Patient With 45, X, PSU DIC(X;15) (P22; P11.2) dn Translocation Causes the SHOX Locus Heterozygosis Deletion

PP-21. Emine Ikbal Atli, et al., Turkey 

Molecular Citogenetics of non-Syndromic Polydactily

PP-22. Asli Karacan, et al., Turkey 

Evaluation of the Role of Variants in JAK1 and STAT1 Genes Associated with Mendelian Susceptibility to Mycobacterial Infection in Neuroinflammation-Related Neurological Diseases

PP-23. Şevval Kaya, et al., Turkey 

A De Novo Large 5q35 Duplication As a Result of Translocation; Reversed Sotos Syndrome with Craniosynostosis

PP-24. Ivan Akimovski, et al., North Macedonia

The importance of multidisciplinary approach and early genetic testing in a patient with 7Q11.23 duplication syndrome. A case report.


PP-25. Irena Stojanovska, et al., North Macedonia

The Impact of White Matter Alterations in 16p11.2 Deletion and Duplication Syndrome

PP-26. Gülnihal Bulut, et al., Turkey

A Novel Splice Site Variant in FLNA Gene Identified in Three Siblings Affected with Multiple Congenital Anomalies


October 06, 2023 (Friday)

16:55 – 17:55

Poster sessions 3. Cancer genetics/Other topics (MONITOR 3)

             Moderator: Rijad Konjhodžić, Bosnia and Herzegovina

             Posters PP-27 to PP-39

PP-27. Maria Glushkova, et al., Bulgaria

New Era in Oncogenetics: Bulgarian Experience in Breast and Ovarian Cancer


PP-28. Nela Maksimovic, et al., Serbia

The Association of ACSL1 rs8086 Polymorphism with Clinicopathological Characteristics of Colorectal Cancer Patients


PP-29. Selma Durgut, et al., Bosnia and Herzegovina

Droplet Digital PCR as a Molecular Tool for the Detection of the EGFR T790M Mutation in NSCLC Patients with the EGFR Activating Mutations


PP-30. Dijana Mitić, et al., Serbia

Exosomal microRNAs Derived from Oral Premalignant (DOK) and Malignant (SCC-25) Cell Lines


PP-31. Sanja Kiprijanovska, et al., North Macedonia

The molecular changes that lack the presence of the FGFR3 or CDKN2A/2B defects in bladder cancer patients from the N.Macedonia using whole exome sequencing


PP-32. Simona Jakovchevska, et al., North Macedonia

The Role of First-line BRCA Screening Method for Population-Specific Pathogenic Variants in Breast Cancer Patients


PP-33. Elizabeta Krstevska Bozhinovikj, et al., North Macedonia

Conventional and Emerging Prognostic Markers in Childhood Acute Lymphoblastic Leukemia


PP-34. Marija Staninova Stojovska, et al., North Macedonia

Pathogenic Mutations in the FLCN Gene Identified in a Family with APC-Negative Familial Adenomatous Polyposis (FAP)


PP-35. Emilija Gjorgievska, et al., North Macedonia

Frequency of RAS/RAF Mutations in Patients with Metastatic Colorectal Cancer from North Macedonia


PP-36. Koray Tekin, et al., Turkey

Pedigree Analysis in Probands with Variants in the CDH1 Gene


PP-37. Ratka Mandić, Milena Janković, Serbia

Pharmacogenetic Testing in Patients with Leukemia and Colorectal Cancers


PP-38. Nejira Handzic, et al., Bosnia and Herzegovina

Examining Non-Invasive Prenatal testing (NIPT): Overview of Challenges, Perspectives, Case Reports, and data in one-year period


PP-39. Lana Salihefendić, et al., Bosnia and Herzegovina

Analysis of Identified Human Genetic Variants in COVID-19 Patients and Their Correlation with Other Viral Infections


October 07, 2023 (Saturday)

12:40 – 13:40

Poster sessions 4. Rare Diseases (MONITOR 1)

             Moderator:  Aleksandra Janchevska, North Macedonia

             Posters PP-40 to PP-52

PP-40. Marina Andjelkovic, et al., Serbia

Characterization of 16 Novel Genetic Variants in Genes Related to Childhood Epilepsies


PP-41. Emilija Shukarova Stefanovska, et al., North Macedonia

Molecular Diagnosis of Eye Disorders by Next-Generation Sequencing


PP-42. Kunka Kamenarova, et al., Bulgaria 

Genomic Landscape of Inherited Retinal Degenerations in a Cohort of 103 Bulgarian Families


PP-43. Violeta Anastasovska, et al., North Macedonia

Frequency of CYP21A2 Point Mutations in Macedonian Patients with 21-Hydroxylase Deficiency


PP-44. Olivija Efinska Mladenovska, et al., North Macedonia

HFE Genotype, Ferritin and Fe Levels in Patients with Suspected Hereditary Hemochromatosis


PP-45. Marija Vujovikj, et al., North Macedonia

The Spectrum of ATP7B Pathogenic Variants Among Patients with Wilson Disease in North Macedonia


PP-46. Anila Laku (Babameto), et al., Albania

PCYT1A Frameshift Variant in an Albanian Female Patient with Spondylometaphyseal Dysplasia with Cone-rod dystrophy


PP-47. Robert Janevski et al., North Macedonia

Exploring Potential Association between Autism Spectrum Disorder, Genetic Deletions in GSTT1, GSTP1, GSTM1, and Heavy Metals Found in Hair Samples


PP-48. Simge Tuana AY, et al., Turkey

Clinical Exome Sequencing Identifies Woodhouse-Sakati Syndrome in Siblings by Detecting de novo Mutation


PP-49. Senol Demir, et al., Turkey

Two Siblings Diagnosed with Sitosterolemia Responding Well to Ezetimibe treatment


PP-50. Ayşenur Ersoy, et al., Turkey

A Turkish Family with Acrodysostosis 2 (Acrdys2): A Novel Mutation


PP-51. Ardiana Beqiri-Jashari, et al., North Macedonia

Dark Urine Key to Early Diagnosis of Alkaptonuria: A Case Report


PP-52. Elena Mitreska, et al., North Macedonia

Prenatal Kidney Hyperechogenicity: A Clue to an Early Diagnosis of Bardet-Biedl Syndrome


October 07, 2023 (Saturday)

12:40 – 13:40

Poster sessions 5. Reproductive genetics (MONITOR 2)

             Moderator: Savina Hadzidekova, Bulgaria

             Posters PP-53 to PP-64

PP-53. Hakan Gürkan, et al., Turkey

Investigation of the Relationship of NLRP2, NLRP7 and KHDC3L Gene Variations in Patients with Recurrent Pregnancy Loss History


PP-54. Marija Mijovic, et al., Serbia

Prenatal Diagnosis of Skeletal Dysplasia – Review of the Literature and Experiences of the Clinical Genetics Service from Belgrade


PP-55. Ana-Marija Bosilkovska, et al., North Macedonia

Case Report: Male Patient with Balanced Reciprocal Translocation 46, XY,t(1;8)(p32~34;p21)


PP-56. Simona Bardakoska, et al., North Macedonia

Robertsonian Translocations and Infertility


PP-57. Anđela Stanković, et al., Serbia

Expanding phenotipic Spectrum of MPDZ gene mutations


PP-58. Stefan Matik, et al., North Macedonia

Robertsonian Translocation 45, XY,der(13;15)(q10;q10) in an Azoospermic Patient


PP-59. Naser Durmishi, et al., North Macedonia

Cryopreservation of Human embryos and Neurodevelopmental disorders


PP-60. Mila Sleptsova, et al., Bulgaria

Whole Exome Sequencing in Prenatal Diagnostics – Advantages and Disadvantages


PP-61. Melda Erdoğdu, et al., Turkey

Preliminary Study Results of Families’ with Fetal Ultrasound Abnormalities Approaches to Invasive Diagnosis and Outcomes in Pregnancies


PP-62. Sretenka Vidić, et al., Serbia

A Case Report on Maternal Translocation t(X;21) (q13; p12) and Its Inheritance


PP-63. Gorjan Milanovski, et al., North Macedonia

Linking KIR and HLA Polymorphisms to Reproductive Challenges in Macedonian Couples


PP-64. Gjorgji Bozhinovski, et al., North Macedonia

Whole-Exome Sequencing on Products of Conception from Early Pregnancy Losses Reveals a High Frequency of Various Monogenic Disorders


October 07, 2023 (Saturday)

12:40 – 13:40

Poster sessions 6. Personalized medicine/Pharmacogenomics/Immunogenetics/Other topics (MONITOR 3) 

             Moderator: Meri Kirijas, North Macedonia

             Posters PP-65 to PP-76

PP-65. Ivan Barbov, et al., North Macedonia

Pregnancy Course and Delivery in Woman with Spinal Muscular Atrophy Type II: A Case Report

PP-66. Milena Jankovic, et al., Serbia

CYP2C9 Screening: Important Step in Siponimod Treatment of Secondary Progressive Multiple Sclerosis

PP-67. Hristina Dicevska, et al., North Macedonia

Possible association between 3p21.31 (rs11385942) and 9q34.2 (rs657152) and the severity of COVID-19 disease in patients from N. Macedonia

PP-68. Megi Micevska, Maja Popova, North Macedonia

Correlation Between the Most Prevalent HPV Types and Cytological Findings in Macedonian Women

PP-69. Mirko Spiroski, et al., North Macedonia

Killer Cell Immunoglobulin-Like Receptors in SFS – Marrow Donor Registry (MK-SFSMDR): Feasibility in Identifying Better Donors

PP-70. Shqipe Spahiu-Konjusha, Kosovo

Hyper IgM Syndrome- Case Report

PP-71. Lada Živković, et al., Serbia

Evaluation of the Antioxidant Potention of Biochaga invitro 

PP-72. Ela Zaimi, et al., Albania 

A Case of Chimerism in a Paternity Study

PP-73. Renata Jankova, et al., North Macedonia

Use of Y Chromosome Demographic Characteristic in Tracing Balkan Population Origins

PP-74. Mehmet Berkay Akcan, et al., Turkey

Evaluation of Genetic Variants Related to Congenital Monosaccharide and Disaccharide Metabolism Disorders from Data Obtained by Whole Exome Sequencing, and Determination of Carrier Ratios in Çanakkale

PP-75. Zimere Saiti Musliji, et al., North Macedonia

Association of the FABP2 Ala54Thr Polymorphism with Obesity in Young North Macedonians

PP-76. Kristina Stamatovska, et al., North Macedonia

VDR Gene Polymorphisms – First Experience of Our Laboratory



Updated Program


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!