Medical genetics and molecular diagnostics B-BMOL.027
Wykład (W) Semestr zimowy 2025/2026

"Genetics in Medicine" Nussbaum RL McInnes RR Willard HF Hamosh A Thompson MW. Thompson & Thompson. Elsevier (7th ed. 2007; 8th ed. 2015)

Learning outcomes approved on the basis of the Resolution of the Senate of the Maria Curie-Skłodowska University No. XXV – 16.11/22 of 02.04.2022, i.e. from the learning cycle 2022/2023:

Knowledge

W1.The graduate knows and understands the different types of inheritance of genetic diseases and understands the level of risk in these diseases (K_W01, K_W02)

W2.The graduate knows and understands the differences between genetic diseases at the molecular level and the sources of heterogeneity in genetic diseases (K_W01, K_W02)

W3.The graduate knows and understands the possibilities of using the achievements of genetics in medical diagnosis (K_W04, K_W05)

W4. Graduate knows and understands contemporary techniques used in genetic diagnosis (K_W04)

Skills

U1. The graduate is able to propose a course of action in diagnosis: from phenotype to molecular diagnosis (K_U02, K_U03)

U2. The graduate is able to select appropriate molecular techniques for verification of clinical diagnosis or screening (K_U02, K_U03, K_U06)

Social competences

K1. The graduate is ready to critically evaluate the value of diagnostic tests (K_K03)

K2.The graduate is ready to recognise the importance of the heterogeneity of genetic diseases for the success of diagnosis (K_K03)

Genetics and genomics in medicine: human genome; chromatin and chromosomes; cell divisions; karyotype; human gametogenesis and fertilization; medical relevance of mitosis and meiosis; human genes organization and structure; fundamentals of gene expression and regulation; variation in gene expression and its relevance to medicine. Mutations and their consequences: types and mechanisms of mutations; how environmental factors and chemicals cause mutations; consequences of mutations; effects of mutations on gene expression. Types of inheritance: mendelian and modified mendelian (with affecting factors), mitochondrial, multifactiorial; molecular basis of genetic diseases; molecular pathology in recessive and dominant inheritance; examples of human diseases due to mutations in different classes of proteins. Tools in human molecular genetics. Genetic testing: molecular, chromosomal and biochemical genetic tests; benefits and drawbacks of genetic testing; examples of genetic testing results. Principles of clinical cytogenetics: chromosome abnormalities; studies of chromosomes in human mitosis and meiosis - classical cytogenetic methods; chromosomal disordes; mendelian disorders with cytogenetic effects; molecular cytogenetic methods; cytogenetic analysis in cancer.