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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)
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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)
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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)
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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)
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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)
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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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