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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.
Poslední úprava: 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. Poslední úprava: 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. Poslední úprava: 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 Poslední úprava: 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 Poslední úprava: Dimitriou Alena, Bc. (23.10.2024)
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