SYLLABUS
Academic year 2021/2022
Name of a course / module | Genetics | ||
Name of a department where course is held | Department of Clinical Genetics | ||
E-mail of department |
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Faculty of | Medicine with Division of Dentistry and Division of Medical Education in English | ||
Name of a field of study | Medicine | ||
Level of education | First degree studies, Uniform master’s degree studies | ||
Form of study | full time £ part time £ | ||
Language of instruction | Polish £ English £ | ||
Type of course | obligatory £ facultative £ | ||
Year of study / Semester |
I £ II £ III £ IV £ V £ VI £
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1 £ 2 £ 3 £ 4 £ 5 £ 6 £ 7 £ 8 £ 9 £ 10 £ 11 £ 12 £
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Introductory courses with preliminary requirements | anatomy, embryology, molecular biology, biochemistry, physiology, pathophysiology elements The implementation of of learning outcomes in terms of knowledge, skills and competencies of the previous years of study | ||
Number of didactic hours with specification of forms of conducting classes | 40 hours in this: 10 – lectures, 20 – classes, 10 – seminars
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Assumptions and aims of the course | The Student should know the basic mechanisms of inheritance, etiology and variation of phenotypic traits (along with dysmorphic features ) of selected genetic disorders to be able to recognize genetic syndromes ; to understand the objectives, principles and stages of genetic counseling and the role of psychological factors in occurrence of the crisis in parents of children diagnosed with genetic syndrome; tips of coping with the diagnosis of genetically determined disorders in child in the doctor-patient relationship; understand the basics of analysis of inheritance of genetic disorders and pedigrees segregation analysis, estimate the probability of the birth of a child with malformations and genetic risk of various pathologies of pregnancy; know the rules of the non directive advice in procreation decision, the possibility of prenatal diagnosis of the disease and other options open for parents taking into account the multicultural background of families; understand the basics of cytogenetic and molecular diagnosis of genetic syndromes which verify clinical diagnosis ; should be familiar with the rules for the collection and storing of biological material for genetic testing, and preparation of documentation including photographic documentation of the patient’s phenotype.
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Didactic methods
| - providing knowledge in a form of a lecture - consultation (both regular and organized in individual cases) - discussion - presentation - case description - self study - study of the literature - other practical classes - forms of distance learning (if applicable) - other methods/forms (e.g. e-learning)
Lectures - multimedia presentations Exercises - multimedia presentations, discussion, individual preparation of the student given topics, visits to the centers, which are located a person with genetic disorders
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Full name of the person conducting the course | Jeśli zajęcia są prowadzone przez różne osoby, należy wpisać ogólnie ”employed scientific and teaching staff” employed scientific and teaching staff | ||
Full name of the person responsible for teaching | Renata Posmyk PhD, MD | ||
Symbol and number of learning outcomes according to the teaching standards and other learning outcomes | Description of directional learning outcomes | Form of classes | Verification methods for achieving intended learning outcomes | |
Knowledge | ||||
C.W1 | Knows the basic genetics concepts | lec., ex | Summarizing methods e.g - oral exam - written exam (test - forms, descriptive examination - an essay, report, SSQ, etc.) Forming methods, e.g., - observation of the student's work - pretest - evaluation of the activity in the classroom - completion of each activity - assessment of preparation for classes - discussion in class - partial tests - preliminary tests - case description
Summarizing methods e.g - written exam - test – forms
Forming methods, e.g., - observation of the student's work - evaluation of the activity in the classroom - discussion in class - preliminary tests
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H.W23 | Knows the basic elements of genetic counseling | lec., ex. | ||
C.W2 | Describes linkage and interactions of genes | lec., ex | ||
H.W24 | Dysmorphic features observed in clinical practice as an expression of linkage and interactions of genes | lec., ex., sem. | ||
C.W3 | Describes karyotype of a healthy person and sex chromosomes | ex. | ||
H.W25 | Knows the modern diagnostic techniques of chromosomes important in clinical practice and principles of cytogenetic nomenclature. | ex. | ||
C.W4 | Describes structure of chromosomes and molecular basis of mutagenesis | lec., ex | ||
H.W26 | Describes the genotoxicity of environmental factors on human genome. | lec., ex. | ||
C.W5 | Knows the principles of inheritance of a different number of traits, inheritance of quantitativetraits , independent inheritance of traitsand inheritance of extranuclear genetic information | ex., sem. | ||
H.W27 | Knows the rules of monogenic, polygenic and chromosomal inheritance, and other mechanisms of inheritance | ex. | ||
C.W7 | Describes autosomal and heterosomal aberrations as a cause of diseases in pre- and postnatal periods, including tumor oncogenesis | ex. | ||
C.W6 | Knows the genetics predisposition of blood groups and human conflict in a serological Rh | ex. | ||
H.W28 | Clinical diagnosis of chromosomal diseases | ex., sem. | ||
C.W9 | Knows the basic diagnosis of gene and chromosomal mutations responsible for occurrence of genetic diseases and cancers | ex. | ||
C.W41 | Knows the basic of gene therapy, specifically the targeted therapy of selected cancers | ex. | ||
C.W8 | Knows the factors influencing the primary and secondary genetic population balance | ex. | ||
H.W29 | Can indicate the therapeutic and rehabilitative perspectives for people with intellectual disabilities caused by genetic mutations | lec., ex., sem. | ||
Skills | ||||
C.U1 | Perform a pedigree analysis to estimate a risk of a child to be born with chromosomal aberrations | ex. | Summarizing methods e.g,. - practical examination (with simulator, phantom) - realization of a specific task - project, presentation Forming methods, e.g., - observation of the student's work - pretest - evaluation of the activity in the classroom - completion of each activity - assessment of preparation for classes - discussion in class - partial tests - preliminary tests - case description
Summarizing methods e.g,. - realization of a specific task
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H.U22 | Knows the principles of the assessment of behavioral and morphological phenotype s in the clinical diagnosis of genetic diseases, | ex. | ||
C.U3 | Make a decision concerning the need for obtaining cytogenetic and molecular test results | lec, ex. | ||
H.U23 | Can make a decision about the need for obtaining the cytogenetic and molecular test results depends on clinical diagnosis of the proband or couple which is interested in prenatal diagnosis | lec., ex. | ||
C.U4 | Performe morphometric measurements; analyze the developmental profile and karyotype | ex. | ||
H.U24 | Can interpret cytogenetic and molecular test results in relation to clinical evaluation of patients | ex. | ||
C.U5 | Estimate the risk of clinical manifestation of the disease in the offspring on the basis of family predisposition and environmental factor exposure | ex. | ||
H.U25 | Knows the elements of genetic counseling and the way in which information about the nature of genetic disease and the likelihood of its occurrence in offspring. | lec., ex. | ||
C.U2 | Identifies indications for prenatal diagnosis | ex. |
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Social competence | ||||
K2 | Implements the principles of professional camaraderie and cooperation with other professionals in the field of health care | ex. | Summarizing methods e.g., Continuous assessment by teachers (observation)
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K3 | Knows how to work in a team of professionals in a multicultural and multinational | ex. | Forming methods, e.g., - observation of the student's work - discussion in class - opinions of patients, colleagues
Forming methods, e.g., - observation of the student's work
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K4 | Recognizes own limitations diagnostic and therapeutic, educational needs, plans educational activity | ex. | ||
K1 | Shall maintain the confidentiality medical and knows the patient's rights | lec., ex. | ||
ECTS points | Należy podać liczbę punktów ECTS przypisaną przedmiotowi.- 1,5 | ||
Student Workload | |||
Form of activity | Number of hours to complete the activity | ||
Classes that require the participation of a teacher | |||
| 10 | ||
| 20 | ||
| 10 | ||
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| Total hours: 40 | ||
Student self-study 1 punkt ECTS oznacza 25-30 godzin pracy studenta w różnych formach, takich jak np.: | |||
| 20 | ||
| 15 | ||
| 20 | ||
| Total hours: 55 | ||
Course contents: proszę wpisać hasłowo tematykę poszczególnych zajęć, pamiętając, aby przekładała się ona na zamierzone efekty kształcenia | |
Learning outcomes (symbol and number) | Topics |
C.W1
C.W1
C.W1
C.W1
C.W2
C.W41
C.W41
C.W3
C.W5 C.W41
C.W1
C.W1
C.W1
C.W1 C.W7
| The value of learning about the human genome in medical practice. Basic concepts of genetic that are necessary in clinical practice of a family doctor with emphasis on the history of genetics. The importance of social diagnosis of genetically determined diseases. The way and conditions for informing families about the diagnosis. The problem of secondary mental retardation in children as a result of a parent’s crisis and the lack of social support. Elements of genetic counseling. Clinical and phenotypic (morphological and behavioral) diagnosis. Pedigree analysis. Genetic prognosis. Multidisciplinary care of the patient and his family. Newborn with chromosomal abnormality . Clinical and genetic diagnosis and psychological support of parents to reduce frustration. Down syndrome – clinical and cytogenetic diagnosis, genetic counselling, forms of assistance. The child as a patient before and after birth. Palliative care of children with lethal malformations. The clinical and prognostic significance of being a carrier of a chromosomal translocation (procreation and pregnancy problems in the family). Disorders of sex determination and differentiation in clinical practice. Monogenic diseases. Principles of genetic counseling. Support groups of families with genetic disorders. The concept of normalization and inclusion. Methods for the development of genetic counseling (diagnosis phenotypic, genotypic, assessment of relationship, segregation analysis of pedigrees). The segregation of genetic disorders depending on the mechanism of their formation, examples and methods of inheritance. The morphological phenotype and malformations as an element of clinical diagnosis of genetically determined diseases. Principle of families referral for genetic counseling. The diagnostic procedure in the case of a child with suspected genetically determined disease.
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C.W1
C.W1
C.W3
C.W4
C.W3 C.U4 C.W3
C.W41 C.W5
C.U1 C.U1
C.U1
C.U1 C.U5
| Psychological problems of parents in connection with obtaining diagnosis about genetically determined disease. The concept of behavioral phenotype on the example of Rett syndrome, Prader-Willi syndrome. The principles of obtaining and storing the biological material for cytogenetic studies. The method of obtaining chromosomes. Chromosome analysis using the banding and molecular techniques. Human normal karyotype. Alignment of chromosomes in karyograms – practical exercise. International System of Cytogenetic Nomenclature (ISCN 2020). Basics of molecular cytogenetics. Prenatal diagnosis possibilities, in utero invasive and non-invasive methods for evaluation of malformations and safe obtaining of biological material for genetic tests. Ethical issues of genetic counseling and prenatal diagnosis. Segregation of pedigree analysis and its importance in the definition of inheritance. Determine the probability of recurrence of disease in the family and other pathologies. Practical construction of pedigrees. Rules for the assessment of morphological and phenotypic criteria for sex determination and differentiation. Identification of dysmorphic features in the direct examination, and photographs of the facial part of the head. Practical assesses of the morphological phenotype in children with genetic syndromes. Constructing information card for genetic counseling. Rules for communicating basic medical genetic information to families for the purpose of genetic counseling.
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Obligatory textbook: |
1. Jorde BL, Carey JC, Bamshad M. Medical Genetic. 6th Edition. Elsevier 2019. 2. Nussbaum RL, McInnes RR, Willard HF.Thompson&Thompson. Genetics in Medicine. 8th edition. 2015.
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Optional textbook: |
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Criteria for assessing the achieved learning outcomes and the form and conditions for receiving credit: |
The prerequisite is completion of credit in the form of a written test. The written test can be taken if all classes are passed (lectures - the presence of compulsory, exercises - presence at all classes and active participation in the exercises according to the schedule, seminar - presence at all seminars and active participation in the exercises according to the schedule) in the excused absence - the obligation to make up classes after consultation with the lecturer.
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10-10-2021 Renata Posmyk, PhD, MD
……………………………………………………..
(date and signature of the person preparing the syllabus)
Renata Posmyk,, PhD, MD Renata Posmyk, PhD, MD
……………………………………………… ………………………………………………
(date and signature of the Head of the and (course coordinator)
Department where the course is held)