Clinical Genetics - B81311 (Všeobecné lékařství - AP)

• Anglický název: Clinical Genetics
• Zajišťuje: Ústav biologie a lékařské genetiky 1. LF UK a VFN (11-00160)
• Fakulta: 1. lékařská fakulta
• Platnost: od 2023
• Semestr: zimní
• Body: 2
• E-Kredity: 2
• Způsob provedení zkoušky: zimní s.:
• Rozsah, examinace: zimní s.:0/25, Z [HS]
• Rozsah za akademický rok: 25 [hodiny]
• Počet míst: neomezen
• Minimální obsazenost: neomezen
• 4EU+: ne
• Virtuální mobilita / počet míst pro virtuální mobilitu: ne
• Stav předmětu: vyučován
• Jazyk výuky: angličtina
• Způsob výuky: prezenční
• Způsob výuky: prezenční
• Vysvětlení: Aleš Panczak; [e-mail]
• Další informace: http://biol.lf1.cuni.cz/menu.htm
• Garant: prof. MUDr. Ondřej Šeda, Ph.D.
• Patří mezi: Compulsory for GM 4.y._23/24
• Atributy: Lékařství; Klinický předmět
• Prerekvizity : B83121, B83161, B83162

Anotace

Poslední úprava: Jana Kolářová (08.03.2021)

Clinical genetics is an independent medical field. It studies both genetic and environmental factors underlying many human inherited diseases and inborn errors of development. For diagnostics, prognosis, prevention and therapy it utilizes the knowledgebase of formal genetics, experimental genetics, methods of clinical genetic assessment and state-of-the-art laboratory-based methods, particularly those pertaining to the field of molecular genetics and cytogenetics. Registration and dispensarization of diseases and inborn errors forms an inherent part of clinical genetics.

Cíl předmětu

Poslední úprava: KOT02392 (05.01.2011)

Application of knowledge gained in the subject "Biology and genetics" in theoretical part of studies to clinical practice.

Acquainting students via short internships with the run of clinical genetics out-patient department and laboratories of molecular diagnostics and cytogenetics.

Sylabus

Poslední úprava: Jana Kolářová (08.03.2021)

Theoretical part

Indications of genetic diagnostics

Genetic consultation

Genealogical assessment, establishing of genetic diagnosis and prognosis

Diagnostics and types of genetic diseases

Differential diagnostic methods of medical genetics

Ethical problems of medical genetics

Principles and examples of treatment of genetic conditions

Gene therapy and its perspectives

Perspectives and recent development of the field

Inborn errors of development, classification, aetiology

Teratogens and primary prevention of inborn errors of development

Monogenic type of inheritance (Mendelian diseases)

• OMIM (On line Mendelian Inheritace in Man)

• Postnatal population screening

Chromosomal aberrations

• Types, causes

Multifactorial inheritance

• Genetic principles of multifactorial inheritance

• The effect of environmental factors

• Civilization diseases

• Non-Mendelian inheritance

Syndromology in practice, diagnostic algorithm

• Mentally challenged child in family (interdisciplinary approach)

• Possibilities of assessment

• Family as information source and aid to reaching diagnosis

• Chromosomal aberrations (causes, phenotypic manifestation)

• Imprinting and related conditions, case studies, applications in medicine

Cytogenetic diagnostics

• techniques, methods

• indications

• diagnostic possibilities in clinical cytogenetics and practical applications in medicine

Prenatal diagnostics

• prenatal screening

• development of screening methods and their efficacy

• possibilities and caveats of prenatal diagnostics

• indications for invasive methods of prenatal diagnostics

Preimplantation diagnostics

Oncogenetics

• oncogenes, tumour suppressor genes, mutator genes

• presymptomatic diagnostics

• genetic consultation in cancer families

• indication criteria for laboratory assessment

Reproduction genetics

• meiosis, gametogenesis and their disturbances

• genetic causes of infertility

• chromosomal aberrations and their effect on fertility

• laboratory assessment repertoire

Practical part

participation at genetic counselling sessions at Department of Medical Genetics

Genealogical assessment, pedigree construction - independent work

Personal and family history taking - independent work

Informed consent

Visit in cytogenetics laboratory, practical application of selected steps of cytogenetic analysis

Visit in molecular genetics laboratory

Demonstration of result protocols of the selected molecular genetic diagnostic methods

Demonstration of results of selected cytogenetic methods analysed using computer-aided system of image processing

Case studies - demonstration

Interpretation of results of cytogenetic assessment, prognosis

Interpretation of results of molecular genetics assessment

Independent solution of most common situations in genetic counselling ward

Healthcare documentation

Economics in healthcare

Healthcare reporting

Organization and accessibility of genetic care in Czech, Slovak Republics and the EU

Literatura

Poslední úprava: KOT02392 (03.01.2014)

http://ublg.lf1.cuni.cz/en/recommended-literature

Vstupní požadavky

Poslední úprava: prof. MUDr. Ondřej Šeda, Ph.D. (03.10.2019)

Clinical Genetics - 4th year
Monday morning at 8 a.m., whole group will meet dr. Kotlas in the classroom No. 2 of the Institute of Biology and Medical Genetics (Prague 2, Albertov 4).
Students are requested to have a white coat (gown).