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Course, academic year 2024/2025
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Clinical Genetics - DA1108325
Title: Clinical Genetics
Guaranteed by: Department of Biology and Medical Genetics (13-716)
Faculty: Second Faculty of Medicine
Actual: from 2024
Semester: winter
Points: 2
E-Credits: 2
Examination process: winter s.:
Hours per week, examination: winter s.:0/30, C+Ex [HT]
Extent per academic year: 1 [weeks]
Capacity: unknown / unlimited (unknown)
Min. number of students: unlimited
4EU+: no
Virtual mobility / capacity: no
Key competences:  
State of the course: taught
Language: English
Teaching methods: full-time
Level:  
Guarantor: prof. MUDr. Milan Macek, DrSc.
Teacher(s): MUDr. Markéta Havlovicová
MUDr. Radka Kremlíková Pourová, Ph.D.
prof. MUDr. Milan Macek, DrSc.
MUDr. Pavel Tesner, Ph.D.
doc. MUDr. Markéta Vlčková, Ph.D.
Pre-requisite : DA1105439
Annotation - Czech
Annotation: Clinical (medical) genetics is a very dynamically developing medical field. Its goal is the application of research results from the field of general and experimental genetics in medicine, especially the investigation of the influence of genetic and epigenetic influences on the emergence of human diseases and defects, including the development of hereditary tumor syndromes. Another important goal of the field is to ensure genetic prevention in the family of patients (i.e. in persons with increased genetic risk) and also to ensure the possibility of reproductive choice for patients or their families. Currently, this field is increasingly becoming a partner of all other medical fields in terms of diagnosis and treatment of all hereditary diseases, both rare (monogenic) diseases and polygenically conditioned "common" diseases or congenital defects that affect all organs systems. In this regard, clinical genetics has a "coordinating role" with regard to the intergenerational effects of genetic diseases and is significantly involved in the development of e.g. pharmacogenetics, immunogenetics, cardiogenetics, neurogenetics and oncogenetics. It also significantly complements the issue of molecular pathology due to the fact that it combines the effects of germline and somatic variation in the human genome. The application of human genome research, bioinformatics procedures and artificial intelligence, the study of genotype-phenotype correlations (i.e. the presentation and clinical course of the disease), the influence of non-genetic factors on the manifestation of diseases and pharmacogenetic approaches in therapy have contributed significantly to progress in medicine. Clinical genetics plays a key role in putting these findings into practical use, in their correct interpretation and last but not least in the management of interdisciplinary cooperation and care for families with the occurrence of genetic diseases. The course is designed to facilitate understanding of these complex contexts. It is a weekly block of lectures and practical exercises, which also include cooperation in practical demonstrations of health and social issues in cooperation with the Rare Diseases Czech Republic (RDCR). The block also includes genetic investigation methods, interpretation of results, methods of calculating genetic risks or work with genetic databases.
Last update: Dimitriou Alena, Bc. (23.10.2024)
Aim of the course - Czech

Course objectives

In the course of clinical genetics, students of the 4th year acquire basic knowledge in the field of clinical and molecular genetics. The teaching is designed in the following thematic areas:

1. Objectives of genetic examination - Genetic counseling - determination of an accurate genetic diagnosis, determination of etiology, share of genetic and non-genetic factors, selection of risky members in the family, calculations of genetic risks, proposal of preventive measures

2. Genetic investigation methods - cytogenetic - karyotype, FISH, array CGH, molecular genetic investigation methods - PCR, Sanger sequencing and new generation sequencing (massively parallel sequencing).

3. Methods of genetic prevention - preconception, prenatal and perinatal care (including reproductive genetics), prenatal and preimplantation genetic testing, primary prevention of congenital developmental defects, laboratory methods in periconceptional care.

4. Syndromology, dysmorphology, reverse phenotyping, use of the most modern methods in syndromology (3D scanning) and genetic databases in practice.

5. Oncogenetics.

6. Cardiogenetics, including the problems of sudden death and genetics of disorders of other organs, such as nephrogenetics, genetics of sensory disorders or inborn errors of metabolism.

7. Neurodevelopmental diseases including neurodegenerative diseases, syndromic and non-syndromic intellectual disabilities and autism spectrum disorders (ASDs).

8. Pharmacogenetics.

Last update: Dimitriou Alena, Bc. (23.10.2024)
Course completion requirements - Czech

Course completion conditions

The condition for granting credit is completion of the course with a maximum excused absence of 20% of the total number of hours of instruction; in practice it is one excused day.

One additional absence can be accepted on the basis of medical treatment confirmation or other relevant confirmation.

A person is approved to take an exam only after obtaining a credit and having knowledge of the subject matter summarized in the exam questions.

Last update: Dimitriou Alena, Bc. (23.10.2024)
Literature - Czech

Literature:

Required literature:

Maříková T.: Klinická genetika : praktické aplikace (A) (available also as an e-book)

Pritchard D. J.: Základy lékařské genetiky

Bory P., Matthijs G.: Všichni jsme GENiální: Lidská genetika slovem a obrazem

Recommended literature:

Žižka, J.: Diagnostika syndromů a malformací

Lebl, J.: Kazuistiky z molekulární genetiky

Passarge, E.: Color atlas of genetics, 2013 (E), 2007

Collins, F.: Řeč života

Jorde, L.B., John, C.C., Bamshad, M.J. : Medical Genetics: With STUDENT CONSULT Online Access

Read, A. , Donnai, D. : New Clinical Genetics

Sermon. K., Viville, S.: Textbook of Human Reproductive Genetics

Strachan, T., Goodship, J., Chinnery, P.: Gennetics and genomics in medicine

Harper, P.S.: Practical genetic counselling: 6th ed. Oxford University Press, 2004

Kočárek, E.: Klinická cytogenetika I.

MOODLE:

https://dl1.cuni.cz/course/index.php?categoryid=147

Last update: Dimitriou Alena, Bc. (23.10.2024)
Requirements to the exam - Czech

Exam requirements

The exam consists of selecting three exam questions by lot (the combinations are determined in advance) and the subsequent answers to these questions.

Questions for the exam in Clinical Genetics 2024/2025:

1. Specific aspects of genetic counseling

2. The role of the clinical geneticist in multidisciplinary care

3. Etiology of birth defects and genetic diseases

4. Pharmacogenetics, "Direct to consumer" (DTC) testing

5. Rare diseases, patient organizations

6. Genealogical analysis

7. Consanguinity, risks, measures

8. Characteristics of AD inheritance, examples of the diseases

9. Characteristics of AR inheritance, disease examples

10. Characteristics of X-linked inheritance, examples of diseases

11. Mitochondrial inheritance, disease examples

12. Multifactorial inheritance, examples, risk counting

13. The most common genetic diseases

14. The most common inborn errors of metabolism

15. Microdeletion syndromes

16. Chromosomal instability and its clinical significance

17. The most common congenital developmental defects - diagnosis, etiology, prevention

18. Newborn screening

19. Genetic risks of advanced maternal and paternal age

20. Determination of genetic risks (monogenic and multifactorial diseases)

21. Use of databases in clinical genetics

22. Prenatal screening in 1st and 2nd trimester

23. Primary prevention of genetic diseases

24. Prenatal genetic care

25. Preimplantation genetic testing

26. Non-invasive methods of prenatal diagnosis

27. Invasive methods of prenatal diagnosis

28. Termination of pregnancy due to genetic causes

29. Basic syndromes conditioned by chromosome aberrations

30. Clinical-genetic examination of a dysmorphic patient

31. The use of cytogenetic examination in clinical genetics

32. Use of molecular and genomic diagnostics in clinical genetics

33. New laboratory genetic methods and their impact on clinical genetics and other medical

disciplines

34. Hereditary cancer syndromes

35. Cancer-predisposing genes

36. Nephrogenetics

37. Genetics of intellectual disability and autism spectrum disorders (ASDs)

38. Neurogenetics

39. Repeat expansion diseases

40. Genetics of sensory disorders

41. The most common syndromes with congenital heart defects

42. Genetics of cardiomyopathies and arrhythmogenic syndromes

43. Treatment options for hereditary diseases

44. Gene therapy

45. Cooperation between a geneticist and a pathologist

46. Cooperation between a geneticist and a radiologist

47. Cooperation between a geneticist and an infectious disease specialist, a pulmonologist

48. Indications of genetic examination in the practice of orthopedists and anesthesiologists

49. Indications of genetic testing in the practice of a GP for Children and Youth.

50. Indications of genetic examination in the practice of a General Practitoner

51. Indications of genetic examination in the practice of a gynecologist

52. Indications of genetic examination in the practice of a pediatric neurologist

53. Indications of genetic examination in the practice of a neurologist for adults

54. Indications of genetic examination in the practice of a psychiatrist

55. Indications of genetic examination in the practice of neurosurgeons and anesthesiologists

56. Indications of genetic examination in the practice of a cardiologist

57. Indications of genetic examination in the practice of a dermatologist

58. Indications of genetic examination in the practice of immunologist and rheumatologist

59. Indications of genetic examination in dental practice

60. Indications of genetic examination in the practice of an ophthalmologist

61. Indications for genetic testing in the practice of ENT doctors and phoniatricians

62. Indications of genetic examination in endocrinologist practice

63. Indications of genetic examination in the practice of a neonatologist

64. Indications of genetic examination in the practice of nephrologists and urologists

65. Indications of genetic examination in the practice of an oncologist

66. Indications of genetic examination in the practice of a general surgeon

Last update: Dimitriou Alena, Bc. (23.10.2024)
Syllabus - Czech

Syllabus

Introduction to Clinical Genetics

The importance of genetic counseling

Multidisciplinary genetic care

Basics of clinical dysmorphology: what still constitutes the norm

Modern approaches changing clinical genetics (3D morphometry, NGS)

Genetic databases

Practical exercises in dysmorphology

The role of genetics in periconceptional, prenatal and perinatal care, laboratory methods in periconceptional care, teratology

Hereditary metabolic disorders and newborn screening

Cardiogenetics and diagnostic situations

Oncogenetics and diagnostic situations

Genetics of pediatric neurology, mitochondrial disorders, neurogenetics

Genetics of sensory disorders

Genetics in immunology

Genetically determined nephropathy

Genetics of mental retardation and autism spectrum disorders

Gene therapy

Genetics in medicine, genetics of multifactorial diseases, epigenetics, pharmacogenetics, personalized medicine

Acute genetics: Post mortem examination after sudden death

Last update: Dimitriou Alena, Bc. (23.10.2024)
 
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