4.5. Clinical Genetics
1600-LekM5LSSGEN-J
The aim of clinical genetics classes is to familiarize students with modern knowledge about the genetic basis and mechanisms of diseases (including cancer) and to provide knowledge about genetic techniques commonly used in genetic diagnostics. Students become familiar with the principles of referring patients to genetic counseling, indications for genetic testing and conducting genetic counseling. They learn about monogenic, polygenic and mitochondrial diseases, rare diseases, late-onset diseases, hereditary and hematological cancers and the possibilities of their genetic diagnosis. Students learn as per based on the clinical picture and the results of genetic tests, a diagnosis of a genetic disease can be made.
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Term 2022/23:
The aim of classes in clinical genetics is to familiarize students with modern knowledge about the genetic background and mechanisms of diseases (including cancer) and to provide knowledge about genetic techniques commonly used in genetic diagnostics. Students learn about the principles of referring patients to a genetic clinic, indications for genetic testing and conducting genetic counseling. They will learn about monogenic, polygenic and mitochondrial diseases, rare diseases, late-onset diseases, hereditary and hematological cancers and the possibilities of their genetic diagnosis. Students learn how to
based on the clinical picture and the results of genetic tests, make a diagnosis of a genetic disease.
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Total student workload
Total workload of a student/postgraduate student/participant of further education courses
1. The workload related to classes requiring the direct participation of academic teachers is:
- participation in seminars: 14 hours
- participation in exercises 10 hours
- conducting the assessment: 2 hours
The workload related to classes requiring the direct participation of academic teachers is:
26 hours, which corresponds to 1 ECTS point
2. Balance of student workload:
- participation in seminars: 14 hours
- participation in exercises: 10 hours
- preparation for seminars (including reading the indicated literature for 5 hours
- preparation for exercises – 3 hours
- preparation for and passing the exam: 5+2 = 7 hours
The total student workload is 39 hours, which corresponds to 1.5 ECTS points
The total student workload is 39 hours, which corresponds to
1.5 ECTS points
1. Balance of workload related to the implementation of learning outcomes in medical simulation conditions (group E):
not applicable
2. Balance of workload related to the implementation of learning outcomes related to medical communication:
not applicable
Learning outcomes - knowledge
W1: knows the normal human karyotype and various types of sex determination (C.W1)
W2: knows the genetic causes of hereditary predisposition to cancer (C.W2)
W3: knows patterns of inheritance of a different number of features, inheritance of quantitative features
independent inheritance of traits and inheritance of extranuclear genetic information (C.W3)
W4: knows genetic diagnostic methods and basic indications for their use (C.W8)
W5: knows the causes, symptoms, principles of diagnosis and therapeutic procedures in the most common genetic diseases in children and adults (E.W36)
Learning outcomes - skills
U1: can draw and analyze pedigrees and identify clinical and pedigree features suggesting a genetic basis of diseases (C.U1)
U2: can make decisions about performing cytogenetic and molecular tests (C.U2)
U3: can interpret basic genetic test results, including karyotypes (C.U3)
U4: can determine genetic risk based on pedigree and genetic test results in the case of chromosomal aberrations, genomic rearrangements, diseases single-gene and multifactorial (C.U4)
Learning outcomes - social competencies
K1: A student is aware of his limitations and considers a permanent necessity of schooling (K_K05)
K2: uses objective sources of information (K_K07)
K3 A student who has got a custom and a skill of permanent schooling, has the skill to cooperate with other meds and medical staff also in multicultural (K_K09 )
Teaching methods
Lectures:
• informative lecture
• conversation lecture
• didactic discussion
• case analysis
Exercises:
• demonstration with instruction
subject exercises
• • case analysis
Observation/demonstration teaching methods
- display
Expository teaching methods
- problem-based lecture
Exploratory teaching methods
- seminar
Type of course
compulsory course
Prerequisites
(in Polish) Student(ka) przystępując do zajęć musi znać materiał przekazany na II roku studiów z przedmiotu Podstawy genetyki klinicznej oraz podstawowe pojęcia z zakresu genetyki.
Course coordinators
Term 2023/24: | Term 2022/23: |
Assessment criteria
Entrance tests ( > 75%): W1 – W5, U2, U3, U4
Credit with a grade (≥60%): W1 – W5, U1 - U4
Prolonged follow-up (> 50%): K1 – K3
The condition for taking the final written test is obtaining a positive result on the tests and a positive assessment in the field of social competences.
Assessment criteria - (selection test)
% points Score
92-100 bdb (5,0)
84-91 db+ (4,5)
76-83 db (4,0)
68-75 dst+ (3,5)
60-67 dst (3,0)
0-59 ndst (2,0)
Practical placement
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.
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Term 2022/23:
Basic:
1. Lynn B. Jorde, John C. Carey. (ed. Maciej Borowiec): Medical genetics. Edra Urban & Partner, Wrocław 2021
2. Bal J.: Medical and molecular genetics. Elements of clinical genetics. PWN 1, 2017
3. Wegrzyn P.: Genetics in gynecology and obstetrics. PZWL 2018
4. Śmigiel R, Szczałuba K. Genetically conditioned development disorders in children. PZWL 2021
Complementary:
1. Jones K., Jones M., del Campo M. Smith's Atlas of Developmental Malformations. Medipage 2018
2. Jorde L.B. et al. (editor of the Polish edition - B. Kałuszewski): Medical genetics. ed. 2 Urban&Partner 2014
3. Srebniak M.I., Tomaszewska A.: Cytogenetic studies. PZWL 2008
4. Węgleński P.: Molecular genetics. PWN 2012
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Notes
Additional information
Additional information (registration calendar, class conductors,
localization and schedules of classes), might be available in the USOSweb system: