Principles of Medical Genetics
1655-Lek21PGEN-J
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.
Term 2024/25Z:
The lectures and tutorials aim of Basic of medical genetics 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 diagnostic and treatment. Students learn: chromosomal aberrations of autosomes and sex chromosomes that cause genetic syndromes, monogenic and polygenic inheritance on the example of various genetic diseases. The classes discuss: uniparental disomy and genomic imprinting disorders as the basis of microdeletion syndromes and the non-Mendelian manifestation of monogenic diseases. Students also learn about mitochondrial inheritance and the genetic background of carcinogenesis. The course is also aimed at familiarizing students with the principles of pre- and postnatal genetic counseling and indications for the analysis of the constitutional karyotype and acquired karyotype. Students also learn how to interpret the results of cytogenetic and molecular tests enabling the identification of genetic syndromes.
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Total student workload
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
Learning outcomes - knowledge
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
Learning outcomes - skills
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
Learning outcomes - social competencies
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
Teaching methods
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
Tutorials will be conducted stationary.
Expository teaching methods
- informative (conventional) lecture
Exploratory teaching methods
- laboratory
- seminar
Online teaching methods
- cooperation-based methods
Prerequisites
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,
Course coordinators
Assessment criteria
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)
Practical placement
There are no apprenticeships within the course
Bibliography
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.
Term 2022/23Z:
Podstawowa: 1. Lynn B. Jorde, John C. Carey. (red. Maciej Borowiec): Genetyka medyczna. Edra Urban & Partner, Wrocław 2021 2. Bal J.: Genetyka medyczna i molekularna. Elementy genetyki klinicznej. PWN 1, 2017 3. Wegrzyn P.: Genetyka w ginekologii i położnictwie. PZWL 2018 4. Śmigiel R, Szczałuba K. Genetycznie uwarunkowane zaburzenia rozwoju u dzieci. PZWL 2021
Uzupełniająca: 1. Jones K., Jones M., del Campo M. Atlas malformacji rozwojowych według Smitha. Medipage 2018 2. Jorde L.B. i wsp. (red. wyd. polskiego - B. Kałuszewski): Genetyka medyczna. Wyd. 2 Urban&Partner 2014 3. Srebniak M.I., Tomaszewska A.: Badania cytogenetyczne. PZWL 2008
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Term 2023/24Z:
Podstawowa: 1. Lynn B. Jorde, John C. Carey. (red. Maciej Borowiec): Genetyka medyczna. Edra Urban & Partner, Wrocław 2021 2. Bal J.: Genetyka medyczna i molekularna. Elementy genetyki klinicznej. PWN 1, 2017 3. Wegrzyn P.: Genetyka w ginekologii i położnictwie. PZWL 2018 4. Śmigiel R, Szczałuba K. Genetycznie uwarunkowane zaburzenia rozwoju u dzieci. PZWL 2021
Uzupełniająca: 1. Jones K., Jones M., del Campo M. Atlas malformacji rozwojowych według Smitha. Medipage 2018 2. Jorde L.B. i wsp. (red. wyd. polskiego - B. Kałuszewski): Genetyka medyczna. Wyd. 2 Urban&Partner 2014 3. Srebniak M.I., Tomaszewska A.: Badania cytogenetyczne. PZWL 2008
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Term 2024/25Z:
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. Jones K., Jones M., del Campo M. Atlas malformacji rozwojowych według Smitha. Medipage 2018 2. Lupski J.R., Stankiewicz P.: Genomic Disorders. Humana Press Inc. 2006. 3. Richards J.E., Hawley R.S.: The Human Genome. A User's Guide. Elsevier 2010. 4. Strachan T., Read A.: Human Molecular Genetics. 4th Edition. Garland Science 2018.
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Additional information
Additional information (registration calendar, class conductors,
localization and schedules of classes), might be available in the USOSweb system: