Dear students of the 4th Year 2025/2026

Welcome to the Genetic Course, held by The Department of Clinical Genetics

of the Medical University of Białystok.

Before starting the course of Genetics, please read the Regulations.

LECTURES

ONLINE- via Blackboard platform

TUESDAY

15.00 - 16.30

07.10.2025

14.10.2025

21.10.2025

28.10.2025

04.10.2025

Lectures topics

Genetic counselling. - dr R. Posmyk

Genetics in prenatal diagnosis. - dr R. Posmyk

Genetic factors in pregnancy failures. - dr R. Posmyk

Pharmacogenetics. - dr hab. N. Wawrusiewicz-Kurylonek

Newborn Screening. - dr hab. N. Wawrusiewicz-Kurylonek

Class schedule

Department of Clinical Genetics, Collegium Pathologicum Building 3rd Floor (DCG) OR Dental Teaching Center,  M. Sklodowskiej-Curie 24A street (DTC)

01.10-07.10.2025 - 8.00-11.45 

groups no. : 10, 11

01.10 – Ex. no. 4, DCG

02.10 – Ex. no. 3, DCG

06.10 – Ex. no.2, DCG

07.10 – Ex. no.1, DCG

08.10-13.10.2025 - 8.00-11.45 

groups no. : 7

08.10 – Ex. no. 4, DTC

09.10 – Ex. no.3, DTC

10.10 – Ex. no.1, DCG

13.10 – Ex. no.2, DTC

08.10-13.10.2025 - 8.00-11.45 

groups no. : 8, 9

08.10 – Ex. no. 4, DTC

09.10 – Ex. no.3, DTC

10.10 – Ex. no.1, DCG

13.10 – Ex. no.2, DTC

22.10-27.10.2025 - 8.00-11.45 

groups no. : 5, 6

22.10 – Ex. no. 1

23.10 – Ex. no.3

24.10 – Ex. no.4

27.10 – Ex. no.2

02.02-05.02.2026 -12.00-15.45 

groups no. : 1, 2

02.02 – Ex. no. 2

03.02 – Ex. no. 1

04.02 – Ex. no. 3

05.02 – Ex. no.4

09.02-05.02.2026 -12.00-15.45 

groups no. : 3, 4 

09.02 – Ex. no. 2

10.02 – Ex. no.1

11.02 – Ex. no.3

12.02 – Ex. no. 4

TOPICS

Exercise 1

Fundamentals of Cytogenetics

• Indications for karyotype analysis.
• Collection and preservation of biological material for cytogenetic testing.
• Stages of karyotype examination.
• Methods for obtaining chromosomes from various tissues.
• Chromosome evaluation using banding techniques and molecular methods (FISH).
• Normal human karyotype.
• International System for Human Cytogenomic Nomenclature (ISCN 2024): principles of karyotype notation.
• Microscopic identification of chromosomes and assessment of breakpoints.
• Numerical and structural chromosomal aberrations: examples of karyotype notation and interpretation.
• Classification of aberrations based on mechanisms of origin and clinical consequences.
• Concept of balanced and unbalanced karyotypes.
• Cytogenetic and clinical interpretation of constitutional aberrations: karyogram analysis, microscopic evaluation, and cytogenetic report preparation.

Exercise 2

1. Autosomal Dominant Disorders
   • Neurofibromatosis type 1 and 2 (NF1, NF2), tuberous sclerosis, achondroplasia, Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, TRP syndrome, Huntington’s disease, spinocerebellar ataxia type 1, myotonic dystrophy type 1, Marfan syndrome, Ehlers-Danlos syndrome.
2. Autosomal Recessive Disorders
   • Congenital deafness, albinism, epidermolysis bullosa, spinal muscular atrophy, cystic fibrosis, phenylketonuria, metabolic blocks.
3. X-linked Dominant and Recessive Disorders
   • Fragile X syndrome, Duchenne and Becker muscular dystrophy, hemophilia A, color blindness, Coffin-Lowry syndrome, Alport syndrome, hypertrichosis.
4. Mitochondrial Disorders
5. Clinical Case Studies and Genetic Counseling

Exercise 3A

1. Microdeletion Syndromes
   • DiGeorge syndrome, Phelan-McDermid syndrome, Williams syndrome, Smith-Magenis syndrome, 15q13.3 microdeletion syndrome.
2. Examples of Epigenetic Disorders
   • Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Russell-Silver syndrome, UPD14; concept of uniparental disomy (UPD).
3. Clinical Case Studies and Genetic Counseling

Exercise 3B

Molecular Genetics and Cytogenetics Techniques as Diagnostic Tools

• Mutations and their types.
• Detection of mutations and other genomic abnormalities.
• Molecular testing report.
• Nomenclature used in molecular diagnostics and relevant databases.

Exercise 4

1. Hereditary Cancer Predisposition Syndromes
   • Hereditary breast cancer (HBC), hereditary breast and ovarian cancer (HBOC), hereditary ovarian cancer (HOC), Lynch syndrome, familial adenomatous polyposis (FAP), Gorlin syndrome, Peutz-Jeghers syndrome, von Hippel-Lindau syndrome, Li-Fraumeni syndrome, retinoblastoma, Wilms tumor, hereditary gastric cancer.
2. Clinical Case Studies and Genetic Counseling