Dear students of the 4th Year 2026/2027

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

06.10.2026 - Genetic counselling. - Dr R. Posmyk

13.10.2026 - Genetics in prenatal diagnosis. - Dr R. Posmyk

20.10.2026 - Genetic factors in pregnancy failures. - Dr R. Posmyk

27.10.2026 - Newborn screening. - Dr hab. N. Wawrusiewicz-Kurylonek

03.11.2026 - Pharmacogenetics. - Dr hab. N. Wawrusiewicz-Kurylonek

Classes schedule

Department of Clinical Genetics, Collegium Pathologicum Building 3rd Floor (DCG) 

CLASSES

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

SEMINMARS SCHEDULE

Place:   Dental Teaching Center, M. Sklodowskiej-Curie 24A Street (DTC)/ Centrum Dydaktyki Stomatologicznej (CDS),

Room 0.34

Groups: 1,2,3,4,5,6.

25.01. 2027 - 12.15-14.30 – Seminar 1  

26.01. 2027 - 12.15-14.30 – Seminar 2

27.01.2027 - 12.15-14.30 – Seminar 3  

Groups: 7,8,9.

01.02. 2027 - 13.30-16.00 – Seminar 1

02.02. 2027 - 13.30-16.00 - Seminar 2

03.02.2027 - 13.30-16.00  - Seminar 3

Seminar 1

”Hereditary cancers”

Topics:

1. Lynch syndrome (HNPCC)

2. Familial adenomatous polyposis (FAP)

3. Gardner syndrome

4. Peutz-Jeghers syndrome

5. Von Hippel-Lindau syndrome (VHL)

6. Gorlin-Goltz syndrome

7. Li-Fraumeni syndrome

8. Cowden syndrome

9. Retinoblastoma

Please work in groups (2-3 persons). Your task is to prepare a short presentation (up to 12 slides) to show at the seminar. Each topic should be covered.

Your presentation should contain:

1. molecular basis, gene(s) name(s), types of mutations, mode of inheritance

2. epidemiology

3. tumour spectrum in particular syndrome

4. dignostic criteria

5. estimated risk of cancer developing (which cancers? % of risk?)

Seminar 2

”Human reproductive failure”

Topics:

1. Male infertility – genetic causes and associated syndromes

2. Male 46,XX

3. Mixed gonadal dysgenesis

4. Female infertility - genetic causes and associated syndromes

5. Swyer syndrome

6. Miscarriages – genetic causes

7. Hereditary thrombophilia

8. Early neonatal death – genetic causes

Please work in groups (2-3 persons).Your task is to prepare a short presentation (up to 12 slides) to show at the seminar. Each topic should be covered.

Your presentation should contain:

1. molecular basis, gene(s) name(s), types of mutations, types of chromosomal aberrations

2. mode of inheritance

3. pedigree examples (if applicable)

4. family recurrence risk

5. symptoms other than infertility or miscarriages (if present)

Seminar 3

”Interesting genetic syndromes”

Topics:

1. Examples of associations (other than VACTERL)

2. An example of skeletal dysplasia

3. An example of ectodermal dysplasia

4. An example of chromosomal syndrome associated with chromosome 22

5. A genetic syndrome with joint hypermobility and high stature as leading features (other than Marfan syndrome and Ehlers-Danlos syndrome).

6. A genetic syndrome with ear dysmorphism as a leading feature

7. A genetic syndrome with polydactyly

8. A genetic syndrome with microcephaly as a leading feature

9. A genetic syndrome with macroglossia as a leading feature

10. A genetic syndrome with short stature as a leading feature

Please work in groups (2-3 persons). Your task is to prepare a short presentation (up to 12 slides) to show at the seminar. Each topic should be covered.

Your presentation should contain:

1. name of the syndrome, OMIM number

2. genetic basis, gene(s) name(s), types of mutation or chromosomal aberrations

3. mode of inheritance

4. pedigree examples and family recurrence risk

5. symptomatic spectrum