Principles of Clinical Genetics

Joining the course, the student is obliged to know the basics of biology and genetics:

1. Basic rules of Mendelian traits of inheritance (dominant and recessive, autosomal and X-linked),

2. DNA and RNA structure and properties,

3. Gene mutations, transcription, translation, restrictive enzymes.

4. Structures and vital functions of cells,

5. Cell cycle, Mitosis and meiosis,

6. Constitutional and acquired karyotype (definitions),

7. Types of chromosomal aberrations and mechanisms of their formation,

(in Polish) przedmiot obowiązkowy

Study hours involving teacher participation

Lectures: 16 h

Tutorials: 24 h

Consultations: 5h

Exam: 2h

Total work time with the teacher is 47h what state 1.88 ECTS

Balance of student workload:

1. Obligation time realized together with teacher:

- taking part in lectures 16h

- taking part in tutorials 24h

- additional consultation time with a teacher - 5h

2. Study hours involving individual student work:

- preparation for tutorials, reading literarture:10h

- repeat topics from lectures and tutorials 12h

3. Time required to preparing and taking part in process of assessment

- writing essays/papers/project: 8h

4. Time required to do obligatory training: not applicable

Total students' work time: 75h what state 3,0 ECTS

W1: A student knows basic terms related to human genetics - K_C.W01

W2: A student knows human chromosomes - K_C.W.03

W3: A student can describe chromosome structure and molecular basis of mutagenesis - K_C.W04

W4: A student knows patterns of inheritance of genetic disorders - K_C.W05

W5: A student knows the most frequent genetic diseases - K_C.W07

U1: A student is able to analyze pedigrees of features and disorders and can assess the risk of bearing a child with chromosomal abnormalities - K_C.U01

U2:A student can create and analyze pedigree - K_C.U01

U3: A student can qualify patients for genetic testing - K_C.U02

KS1: A student is aware of his limitations and considers a permanent necessity of schooling - K_K01

KS2: A student who has got a custom and a skill of permanent schooling, has the skill to cooperate with other meds. stuff in the diagnostic process - K_K08

Lectures (on line): teaching of the newest knowledge of genetic background and mechanisms of diseases (included cancers) and congenital malformations as well as the methods of their treatment.

Tutorials: practical and theoretical exercises including classical and molecular cytogenetics and molecular methods and their using in diagnostics genetic diseases

Individual consultations

- informative (conventional) lecture
- problem-based lecture

- seminar

During classes, students learn the basics of the mechanisms of human genetic diseases (including cancer) and congenital malformations, commonly present in the population. The lectures and tutorials present the genetic syndromes and diseases, as well as diagnostic methods (cytogenetic and molecular) used in clinical genetics.

The lectures aim to familiarize students with the newest knowledge of genetic background and mechanisms of human diseases (including cancer) and congenital malformations as well as the methods of their treatment.

The practical and theoretical tutorials aim to familiarize students with: cytogenetic and molecular methods and their implementation in clinical genetics, aberrations of autosomes and sex chromosomes, pattern of inheritance, uniparental disomy, genetic imprinting, microdeletions syndromes, mitochondrial pattern of inheritance.

Moreover students learn: rules of prenatal and postnatal genetic counselling, indications of analysis constitutional and acquired karyotype and interpretation of genetic results.

Basic literature:

1. Tobias E.S., Connor M., Ferguson - Smith M.: Medical Genetics. 6th Edition. Wiley-Blackwell 2011.

2. Jorde L.B., Carey J.C., Bamshad M.J.: Medical Genetics. 6th Edition. Elsevier 2019.

Complementary literature:

1. Lupski J.R., Stankiewicz P.: Genomic Disorders. Humana Press Inc. 2006.

2. Richards J.E., Hawley R.S.: The Human Genome. A User's Guide. Elsevier 2010.

3. Strachan T., Read A.: Human Molecular Genetics. 4th Edition. Garland Science 2018.

Assessment methods:

- entrance tests: W1, W2, W3, U3

- PowerPoint presentation: W5, K1, K2

- activity during tutorials: W1, W2, W4, W5, U1, U2, U3, K2

- pass tutorials students should have at least 60%

For every entrance test (tutorials 1-7), students can get 5 points (students can have 7x5=35 points for 7 tutorials). Moreover on Tutorial VII students prepare PowerPoint presentation for each can get also 5 points. To pass tutorials students should have at least 24 points (60%). Students who will not have 60% points should take tests from all tutorials (regardless of the final test).

Final test – single choice test

Assessment criteria

92 ⩽… 100 bdb (5)

88 ⩽ … <92 db + (4,5)

80 ⩽ … < 88 db (4)

71 ⩽ … <80 dst + (3,5)

60 ⩽ … <71 dst (3)

0… <60 ndst (2)

There are no apprenticeships within the course.