Medical genetics 2024
Is interactive online course on clinic-oriented human genetics and bioinformatic analyses in studying hereditary. Will cover, among others, the following topics: methods of medical genetics, general inheritance laws, genetic testing in medicine, clinical databases, Next Generation Sequencing, Genome-Wide Association Study (GWAS) analyses.
History of genetics development, as a part of science and medical practice. Classification of hereditary diseases. Comparative description of scientific and clinical studies. Principles of EBM (evidence-based medicine).
Twin study, genealogical, cytogenetic, biochemical, molecular methods.
Genomic mutations. Mixoploids: mosaicism and chimerism, mechanisms of their appearance. Mechanisms of aneuploidy. Chromosomal syndromes caused by aneuploidy: Turner, Klinefelter, triple X, Down, Edwards, Patau. Risk factors for chromosomal mutations.
Deletions, duplications, inversions, translocations, ring chromosome, isochromosome. Chromosomal syndromes caused by chromosomal rearrangements: "Cri du chat", Williams, DiGeorg. Prader-Willi and Angelman syndromes, the phenomenon of genomic imprinting.
Classification of gene mutations. Methods of their research. Mechanisms and causes of gene mutations. The main sources of clinical data: Medscape, Cochrane Library, OMIM, Orphanet
Typical pedigree profiles for different types of inheritance. Mechanisms of inheritance: autosomal recessive, autosomal dominant, X linked dominant and recessive. X-linked diseases in women; irregular lyonization of the X chromosome and its consequences. Reasons for deviations from typical profiles. Penetration. Expressiveness. Interaction of genes. Expansion diseases.
Cystic fibrosis: symptoms, frequency, gene product, gene mutations. Principle of action of therapeutic agent Ivacaftor. Muscular dystrophies of Duchenne and Becker. Characterization of the dystrophin gene, type of mutations and their consequences. Duchenne muscular dystrophy: Exondys51 characteristics and mechanism of action.
Metabolism, genes and enzymes. Classification of inborn errors of metabolism. Clinical signs. Principles of diagnosis. The method of tandem mass spectrometry (TMS). Phenylketonuria (PKU), description and frequency of newborns with the disease. Gene and product characteristics. Mechanism of development of symptoms. Method of treatment. The importance of early diagnosis. Neonatal screening.
Chromosomal mechanism of sex determination. X and Y human chromosomes. SRY locus. Molecular and hormonal mechanism of sex determination. Gonadal dysgenesis. Androgen insensitivity syndrome. Swyer syndrome. Congenital adrenal hyperplasia. Disorders of sex development (DSDs). Intersex people.
Infertility definition. Female factor: chromosomal mutations, Fragile X, rare syndromes. Male factor classification. Spermogram test. Genetic causes of infertility: chromosomal abnormalities, defects of Y-chromosome loci, mutations in the cystic fibrosis gene. Assisted reproductive technologies (ART).
NGS workflow. Bioinformatics analysis of NGS data. Commonly used tools for NGS data analysis. Modern nomenclature of NGS results. Criteria for NGS interpretation, prediction algorithms and necessarily databases. Clinical application of NGS.
GWAS analysis. Genetics and environmental factors measurement. Genome-Wide Association Study (GWAS) - method description. GWAS catalog. Interpretation of genomic study; definition of absolute risk, relative risk, odds ratio. Examples of GWAS success (diabetes, hypertension, schizophrenia, cancer). Genome study value in clinical practice.
