Medical University of Bialystok. Schedule.
  • Updated 15.01.2025 by Zakład Genetyki Klinicznej

    Schedule

     

       

    Schedule for the 5th year

     

     

    		 

    Academic year 2024/2025 - winter semester

    		   

    GENETICS

    		   

     

     

     

     

     

    		  

     

    LECTURES (5x2 hours=10)

    DAYS

    TIME

    		   

    ONLINE

    TUESDAY: 22.10; 29.10; 05.11; 12.11; 19.11

    16.15 -17.45

    		   

    CLASSES (5x6=30 hours)

    		   
       

    Days:

    08.10-14.10

    12.12-18.12

    19.12-10.01

    20.01-24.01

    		   

    Time:

    8:00-12:30

    		   

    Groups

     

     

     

     

    		   

    1

     

     

    Genetics

     

    		   

    2

     

     

    Genetics

     

    		   

    3

     

     

    Genetics

     

    		   

    4

    Genetics

     

     

     

    		   

    5

     

     

    Genetics

     

    		   

    6

     

     

     

    Genetics

    		   

    7

     

     

     

    Genetics

    		   

    8

     

    Genetics

     

     

    		   

    9

    Genetics

     

     

     

    		   

    10

     

    Genetics

     

     

    		   
            

    Seminars (10 hours)

    		   

    Days:

    20.01-24.01

    27.01-31.01

    		   

    Groups

     

    		   

    1

    21.01 - 13.30 - 15.45 22.01 - 13.30 - 15.45 23.01 - 13.30 - 15.45

     

    		   

    2

    		   

    3

    		   

    4

    		   

    5

    		   

    6

     

    28.01 - 13.30 - 15.45 29.01 - 13.30 - 15.45 30.01 - 13.30 - 15.45

    		   

    7

    		   

    8

    		   

    9

    		   

    10

    4

    		  

     

    GROUPS 6 and 7

    20.01- Ex 1

    21.01- Ex 3

    22.01- Ex 4

    23.01- Ex 5 (Meeting point will be given on 22.01)

    24.01- Ex 2

     

    GROUPS- 8 and 10

    12.12.2024- Class 1

    13.12.2024- Class 5

    16.12.2024- Class 3

    17.12.2024- Class 4

    18.12.2024- Class 2

    Attention !!! Class 5

    Meeting point and time will be given 12.12.2024

     

     

    GROUPS- 4 and 9

    08.10.2024- Class 1

    09.10.2024- Class 2

    10.10.2024- Class 3

    11.10.2024- Class 5

    14.10.2024- Class 4

     

     

    CLASSES

    8:00 -12.30

    Department of Clinical Genetics

    Collegium Pathologicum Building 3rd Floor

     

     

     

    Class 1 (dr Renata Posmyk, Beata Stasiewicz-Jarocka, Barbara Panasiuk)

    Part A- Basics of cytogenetics:

     

    1. Clinical indications for karyotyping.
    2. Collecting and preparation of biological material for cytogenetic testing.
    3. Methods  of obtaining chromosomes from various tissues.
    4. Steps of karyotyping.
    5. Evaluation of chromosomes using different banding and molecular techniques (FISH).
    6. Microscopic chromosome identification, breakpoints establishing.
    7. Principles of karyotype report.
    8. ISCN 2020- An International System .of Cytogenomic Nomenclature.
    9. Normal human karyotypes.
    10. Numerical and structural chromosomal aberrations, examples of karyotypes results and interpretation.
    11. Division of chromosomal aberrations according to mechanism of formation and clinical effects.
    12. Definition of balanced and unbalanced chromosomal aberrations.
    1. X-chromosome inactivation- definition, relevance in clinical practice.

     

                 Part B

    1. Work with a microscope (searching for metaphases, identification of chromosomes, karyogramm preparation).
    2. Karyotype writing.
    3. Cytogenetic and clinical interpretation of constitutional chromosomal aberrations.

     

     

    Class 2- dr Joanna Karwowska

     

    Part A

    Autosomal dominant disorders (AD)

    1. Phakomatoses: NF1, NF2, Tuberous Sclerosis
    2. Skeletal dysplasias: Achondroplasia, Apert, Crouzon, Pfeiffer, Muenke and TRP syndromes.
    3. Fibrilinopathies: Marfan syndrome, Beals, Loeys-Dietz,
    4. Collagenopathies: Ehlers-Danlos syndrome, Stickler, Osteogenesis imperfecta.
    5. Elastopathy: Pseudoxantoma elasticum

     

    Autosomal recessive disorders (AR)

    1. Cystic fibrosis

    v Metabolic disorders: albinism, phenyloketonuria, alkaptonuria,

    1. Deafness

     

    Modes of inheritance- X-linked dominant (XLD) and recessive (XLR).

    1. Fragile-X syndrome
    2. Coffin-Lowry syndrome
    3. Hypertrichosis

     

    1. Duchenne muscular dystrophy
    2. Daltonism
    3. Hemophilia type A

     

    Mitochondrial disorders

     

    Part B

    1. Pedigree analysis.
    2. Analysis of clinical cases.
    3. Quiz

     

     

     

    Class 3- dr Natalia Wawrusiewicz-Kurylonek

     

    Part A

    1. Chromosomal disorders: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), mosaic trisomy 8 (Warkany syndrome), mosaic trisomy 9.
    2. Sex chromosomes aberration: monosomy (Turner syndrome), Klinefelter syndrome.
    3. Microdeletion syndromes
    • Cri du chat syndrome,
    • Wolf-Hirschorn syndrome,
    • Di George syndrome,
    • Williams syndrome,
    • Smith-Magenis syndromes,
    • Miller-Dieker syndrome
    • Phelan-McDermin syndrome
    • microdeletion15q13.3
    • Definitions of Imprinting, UPD uniparental disomy, UPD 14.
    • Examples: Angelman syndrome, Prader-Willi, Beckwith-Wiedemann,             Russell-Silver.

     

    Part B

    1. Analysis of clinical cases.
    2. Genetic counselling.
    3. Quiz.

     

     

     

    Class 4a– dr Renata Posmyk

     

    Part A

    Hereditary cancers/syndromes

    1. Hereditary breast and ovarian cancer syndromes: HBC, HBOC, HOC
    2. Hereditary colon cancer syndromes: Lynch syndrome. FAP- familial adenomatous polyposis, Gardner, Peutz-Jeghers.
    3. Other: Gorlin syndrome, Von Hippl-Lindau, Li-Fraumeni.

     

    Part B

    1. Analysis of clinical cases.
    2. History taking, pedigree drawing and interpreation.
    3. Genetic counselling.
    4. Quiz

     

    Class 4b- dr Natalia Wawrusiewicz-Kurylonek

     

    Part A

     

    Molecular genetic and cytogenetic techniques as a diagnostic tool in a clinical practice.

     

    1. Main definitions. Mutation classification.
    2. Types of biological materials used for DNA isolation.
    3. Detection of mutations and other rearrangements.
    4. Molecular laboratory techniques: microarray (aCGH), MLPA, FISH, PCR, PCR-RFLP, Real-Time PCR, ASA-PCR, QF-PCR, nucleic acid hybridization, sequencing (Sanger), NGS- New Generation Sequencing, WES- Whole Exome Sequencing, Trios NGS/WES.
    5. Advantages and disadvantages of methods.

    Part B

    1. Analysis of molecular genetics reports.
    2. Quiz

     

    Class 5- dr Renata Posmyk/ Joanna Karwowska

    1. Visiting  Occupational Therapy Workshops.

    v Clinical examination of patients.

    1. Evaluation of dysmorphic features.

     

    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

     

    After each seminar please send your presentation via Blackboard.

     

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