Biology and Medical Genetics

Title	% from total grade	Grade
1. Individual work	-	-
During the study course students perform six laboratory works / tasks, submitting protocols for them. Each of the successful protocols accounts for 4% of the cumulative final score, for a total of 24%. The presentation of the family tree in the last lesson is assessed as excellent, satisfactory, unsatisfactory. In the case of an excellent presentation, students receive 0.5 points (5%) for the cumulative final grade. At the end of the study course, students are invited to fill in the course evaluation questionnaires for better feedback.

Title	% from total grade	Grade
1. Examination	-	-
Students' participation in classes and adherence to methodology in laboratory work are assessed; weekly examination of theoretical knowledge, ability to explain the results obtained in practical work, to draw conclusions in accordance with the obtained results - a total of 24% of the final grade. Students' knowledge and skills are assessed in 2 colloquia: • 1. colloquium - in cell biology and • 2. colloquium - in genetics. Both colloquia make up 76% of the final grade. At the end of the study course, the type of examination - cumulative exam. If the student is not satisfied with the assessment of the cumulative exam or has not fulfilled all the conditions for obtaining it, an exam consisting of multiple-choice questions is taken.

Human biology. Diversity of life forms. The structure of the cell. The cell theory. Prokaryotes. Eukaryotes. Biologic membranes of cells. Plasma membrane structure and function. Cell transport and communications. Plasma membrane role in the development of human pathologies. Description Topics covered during the class: 1. Cell theory; postulates of classical and modern cell theory. 2. Lipids, carbohydrates, proteins (nucleic acids), characteristics of nucleic acids functions). 3. Diversity of life forms. 4. Plasma (cell) membrane: structure. 5. Membrane transport of substances; its types. 6. Vesicular transport. 7. Examples of plasma membrane pathology. 8. Cell communication (need for communication, signaling molecules, receptors), pathology of receptor function. 9. Types of cell signals.

Cytoplasm and its compounds. Hyaloplasm and organoid structure and functions. Organoid defects role in the development of human pathologies. Description Annotation: 1. Structure and comparison of eukaryotic and prokaryotic cells (common and different signs). 2. Cytoplasmic structures of eukaryotic cells and their functions: 3. Endoplasmic reticulum, Golgi complex, lysosomes, proteasomes, mitochondria, peroxisome, ribosome, cytoskeleton. 4. Cell pathology - the cause of human diseases. Folding disease (Alzheimer 's disease), Graves' disease, glycosylation diseases (disease groups characteristics), lysosomal storage diseases (characteristics of the disease group; Gaucher disease, Teja-Saxon disease), Refsum disease, Kearns-Sayre syndrome, Shwachmamn-Diamond syndrome, Charcot-Marie-Tooth disease

Cell nucleus and its compound. Types of chromatin. Chromosomes. Human karyotype. Cell cycle, its regulation, control and pathologies. Types of cell division. Mitosis. Cell death. Description Annotation: 1. Eikariotu šūnas kodola uzbūve: jāprot aprakstīt visas struktūras un to funkcijas (nozīme) kā arī identificēt šīs struktūras shematiskos zīmējumos. Jāzina cilvēka patoloģijas piemērs, kuras cēlonis ir pārmainīta kodolplātnīte. 2. Hromatīns, tā veidi. Heterohromatīns tā veidi, raksturojums un heterohromatīna veidu piemēri. Eihromatīns, tā raksturojums. 3. Cilvēka hromosomas, metafāzes hromosomas uzbūve, metafāzes hromosomu tipi, kariotips, cilvēka kariotips, 4. Šūnas cikls, šūnas cikla fāzes, galvenie notikumi tajās. Nepilnīga dzīves cikla piemērs, Go šūnas un T šūnas; piemēri. 5. Šūnas cikla regulācija. Ciklīni un ciklīnatkarīgās kināzes, to loma šūnas cikla regulācijā. Šūnas cikla kontrolpunkti. Šūnas cikla regulācijas traucējumi. 6. Apoptoze. Apoptozes nozīme normālā organisma attīstībā. Apoptoze ļaundabīgo audzēju gadījumā. 7. Mitoze, tās stadijas (jāprot raksturot katru mitozes stadiju uzsverot galveno notikumu katrā stadijā, jāidentificē stadijas shematiskos zīmējumos). Mitozes kļūdas un šo kļūdu sekas. Mitozes nozīme.

Meiosis. Gametogenesis. Pathologies of the gametogenesis. Conception and implantation. Description Topics covered during the class: 1. Meiosis: biological significance of meiosis, course of meiosis, possible errors in meiosis and their consequences. 2. Gametogenesis: oogenesis, its periods and characteristics of each period, structure of a mature oocyte; spermatogenesis, its periods and characteristics of each period, sperm structure. Oogenesis and spermatogenesis comparison. 3. Fertilization: the sequence of the fertilization process and the description of each step, the meaning of fertilization

Nucleid acids, its structure and functions. DNA replication. Central dogma of molecular biology (translation, transcription). Genetic code. Description Topics covered during the class: 1. The central dogma of molecular biology 2. Nucleic acids: structure, significance 3. Replication: stages, involved cell elements, significance. 4. Transcription: stages, elements of the cell involved, significance. 5. Translation: stages, cell elements involved, significance. 6. Genetic code, its application.

Introduction into human genetics. Mendel’s laws and Mendelian inheritance. Gene interactions. Description Topics covered during the class: 1. Monohybrid and dihybrid crossing: crossing schemes, accepted designations, terms. 2. Examples of monogenic traits in humans. 3. Human genetics: human as an object of genetic research, tasks of human genetics. 4. Gene interactions: allelic gene interactions (examples), non-allelic gene interactions (examples). 5. ABO blood group genetics: types of gene interactions in ABO blood group system, Rh system, Rh incompatibility. 6. Gene linkage: related genes, crossing-over, gene linkage analysis in humans.

Main types of inheritance: monogenic, multifactorial, mitochondrial. Genetic disorders. Description Topics covered during the class: 1. Genealogical method: symbols, pedigree drawing, genealogical analysis. 2. Monogenic features. 3. Autosomal dominant type of inheritance: types of marriage, criteria of type of birth, example of illness. 4. Autosomal recessive type of inheritance: types of marriage, criteria for type of birth, example of illness. 5. X - linked dominant inheritance type: marriage types, birth type criteria, example of disease. 6. X - linked recessive inheritance type: marriage types, inheritance type criteria, example of disease. 7. Holandric (Y-linked) type of inheritance. 8. Mitochondrial inheritance type: comparison of nuclear and mitochondrial DNA, inheritance type criteria, example of disease. 9. Heredity of multifactorial diseases, examples of pathologies, twin method

Variability: genotypic and phenotypic. Mutations. Chromosome structure and count changes. Description Topics covered during the class: 1. Genome instability. Heredity. Variability. Types of change. 2. Gene mutations: deletions, base substitutions, insertions; examples of pathologies. 3. Chromosome structure changes: deletions, duplications, translocations. 4. Chromosome number changes: triploidy, tetraploidy. 5. Chromosomal diseases: Cri-du-Chat syndrome, chromosome 15 q duplication syndrome, 5q- and 5q + syndrome, Down syndrome; karyotype, characteristics; Turner syndrome, karyotype, characteristics; Claynfelter syndrome, karyotype, characteristics. 6. Genetic pathology of hyperphagia: Prader-Willi syndrome: characteristics, genetic cause. 7. Epigenetic variability, its source. Allelic variants: their meaning, examples. 8. Nutrigenomics.

Introduction into work with light microscope. Microslide analysis of different cells. Independent work: preparation of the protocol of the practical lesson. Description Annotation: During the practical class students get acquainted with the rules of the study course, the rules of using the microscope. By analyzing micro-slides of different cells, students become acquainted with the diversity of living organisms, as well as the relationship between different cell structures and their functions. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Cell transport. Laboratory work: cell osmotic transport. Independent work: preparation of the protocol of the practical lesson. Description Annotation: Students perform laboratory work - prepare native micro slides with animal and plant cells, placing them in saline solutions of various concentrations (hypertonic, isotonic and hypotonic), observing the changes in the cells under the microscope. During and after the lesson, independent students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Microslide analysis: The structure of human nucleus; Mitosis in plant and animal cell; chromosomes. Independent work: preparation of the protocol of the practical lesson. Description Annotation: Students examine microslides with metaphase chromosomes, mitosis in plant and animal cells, perform analysis of observations, discuss the theoretical basis of the lesson. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Microslide analysis: meiosis and gametogenesis. Independent work: preparation of the protocol of the practical lesson. Description Annotation: During the lesson, students analyze various micro slides that show spermatogenesis and oogenesis, make observations and discuss the theoretical rationale for the lesson. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Colloquim: cell biology. Molecular basis of heredity. Nucleic acids. DNA replication. Transcription, translation. Genetic code. Tasks of clinical cases. Independent work: preparation of the protocol of the practical lesson. Description Annotation: During the lesson, students write a colloquium. In the second part of the lesson, students discuss and analyze clinical tasks that use the central dogma of molecular biology. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Genetic problem solving, based on Mendel’s laws of inheritance. Dominant and recessive traits – problem solving. Description Annotation: During the lesson, students discuss different types of inheritance, analyze the risk of inheritance for next generations in the form of clinical tasks.

Pedigree analysis. Genetic problem solving, based on types of inheritance. Independent work: preparation of the protocol of the practical lesson. Description Annotation: During the lesson, students analyze the pedigrees of different types of inheritance, predict the risk of inheritance of the disease or signs for next generations. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Colloquium: medical genetics. Self-studies: presentation of pedigrees Description Annotation: Independent work: students prepare a 3-5 slide Power Point presentation on a genetic disease at home from a list of diseases previously included in e-studies. The presentation includes: a brief description of the disease (cause, pathogenesis and symptoms); a hypothetical pedigree, including at least 3 generations; risk prediction for different members of the pedigree

Human biology. Diversity of life forms. The structure of the cell. The cell theory. Prokaryotes. Eukaryotes. Biologic membranes of cells. Plasma membrane structure and function. Cell transport and communications. Plasma membrane role in the development of human pathologies. Description Topics covered during the class: 1. Cell theory; postulates of classical and modern cell theory. 2. Lipids, carbohydrates, proteins (nucleic acids), characteristics of nucleic acids functions). 3. Diversity of life forms. 4. Plasma (cell) membrane: structure. 5. Membrane transport of substances; its types. 6. Vesicular transport. 7. Examples of plasma membrane pathology. 8. Cell communication (need for communication, signaling molecules, receptors), pathology of receptor function. 9. Types of cell signals.

Cytoplasm and its compounds. Hyaloplasm and organoid structure and functions. Organoid defects role in the development of human pathologies. Description Annotation: 1. Structure and comparison of eukaryotic and prokaryotic cells (common and different signs). 2. Cytoplasmic structures of eukaryotic cells and their functions: 3. Endoplasmic reticulum, Golgi complex, lysosomes, proteasomes, mitochondria, peroxisome, ribosome, cytoskeleton. 4. Cell pathology - the cause of human diseases. Folding disease (Alzheimer 's disease), Graves' disease, glycosylation diseases (disease groups characteristics), lysosomal storage diseases (characteristics of the disease group; Gaucher disease, Teja-Saxon disease), Refsum disease, Kearns-Sayre syndrome, Shwachmamn-Diamond syndrome, Charcot-Marie-Tooth disease

Cell nucleus and its compound. Types of chromatin. Chromosomes. Human karyotype. Cell cycle, its regulation, control and pathologies. Types of cell division. Mitosis. Cell death. Description Annotation: 1. Eikariotu šūnas kodola uzbūve: jāprot aprakstīt visas struktūras un to funkcijas (nozīme) kā arī identificēt šīs struktūras shematiskos zīmējumos. Jāzina cilvēka patoloģijas piemērs, kuras cēlonis ir pārmainīta kodolplātnīte. 2. Hromatīns, tā veidi. Heterohromatīns tā veidi, raksturojums un heterohromatīna veidu piemēri. Eihromatīns, tā raksturojums. 3. Cilvēka hromosomas, metafāzes hromosomas uzbūve, metafāzes hromosomu tipi, kariotips, cilvēka kariotips, 4. Šūnas cikls, šūnas cikla fāzes, galvenie notikumi tajās. Nepilnīga dzīves cikla piemērs, Go šūnas un T šūnas; piemēri. 5. Šūnas cikla regulācija. Ciklīni un ciklīnatkarīgās kināzes, to loma šūnas cikla regulācijā. Šūnas cikla kontrolpunkti. Šūnas cikla regulācijas traucējumi. 6. Apoptoze. Apoptozes nozīme normālā organisma attīstībā. Apoptoze ļaundabīgo audzēju gadījumā. 7. Mitoze, tās stadijas (jāprot raksturot katru mitozes stadiju uzsverot galveno notikumu katrā stadijā, jāidentificē stadijas shematiskos zīmējumos). Mitozes kļūdas un šo kļūdu sekas. Mitozes nozīme.

Meiosis. Gametogenesis. Pathologies of the gametogenesis. Conception and implantation. Description Topics covered during the class: 1. Meiosis: biological significance of meiosis, course of meiosis, possible errors in meiosis and their consequences. 2. Gametogenesis: oogenesis, its periods and characteristics of each period, structure of a mature oocyte; spermatogenesis, its periods and characteristics of each period, sperm structure. Oogenesis and spermatogenesis comparison. 3. Fertilization: the sequence of the fertilization process and the description of each step, the meaning of fertilization

Nucleid acids, its structure and functions. DNA replication. Central dogma of molecular biology (translation, transcription). Genetic code. Description Topics covered during the class: 1. The central dogma of molecular biology 2. Nucleic acids: structure, significance 3. Replication: stages, involved cell elements, significance. 4. Transcription: stages, elements of the cell involved, significance. 5. Translation: stages, cell elements involved, significance. 6. Genetic code, its application.

Introduction into human genetics. Mendel’s laws and Mendelian inheritance. Gene interactions. Description Topics covered during the class: 1. Monohybrid and dihybrid crossing: crossing schemes, accepted designations, terms. 2. Examples of monogenic traits in humans. 3. Human genetics: human as an object of genetic research, tasks of human genetics. 4. Gene interactions: allelic gene interactions (examples), non-allelic gene interactions (examples). 5. ABO blood group genetics: types of gene interactions in ABO blood group system, Rh system, Rh incompatibility. 6. Gene linkage: related genes, crossing-over, gene linkage analysis in humans.

Main types of inheritance: monogenic, multifactorial, mitochondrial. Genetic disorders. Description Topics covered during the class: 1. Genealogical method: symbols, pedigree drawing, genealogical analysis. 2. Monogenic features. 3. Autosomal dominant type of inheritance: types of marriage, criteria of type of birth, example of illness. 4. Autosomal recessive type of inheritance: types of marriage, criteria for type of birth, example of illness. 5. X - linked dominant inheritance type: marriage types, birth type criteria, example of disease. 6. X - linked recessive inheritance type: marriage types, inheritance type criteria, example of disease. 7. Holandric (Y-linked) type of inheritance. 8. Mitochondrial inheritance type: comparison of nuclear and mitochondrial DNA, inheritance type criteria, example of disease. 9. Heredity of multifactorial diseases, examples of pathologies, twin method

Variability: genotypic and phenotypic. Mutations. Chromosome structure and count changes. Description Topics covered during the class: 1. Genome instability. Heredity. Variability. Types of change. 2. Gene mutations: deletions, base substitutions, insertions; examples of pathologies. 3. Chromosome structure changes: deletions, duplications, translocations. 4. Chromosome number changes: triploidy, tetraploidy. 5. Chromosomal diseases: Cri-du-Chat syndrome, chromosome 15 q duplication syndrome, 5q- and 5q + syndrome, Down syndrome; karyotype, characteristics; Turner syndrome, karyotype, characteristics; Claynfelter syndrome, karyotype, characteristics. 6. Genetic pathology of hyperphagia: Prader-Willi syndrome: characteristics, genetic cause. 7. Epigenetic variability, its source. Allelic variants: their meaning, examples. 8. Nutrigenomics.

Introduction into work with light microscope. Microslide analysis of different cells. Independent work: preparation of the protocol of the practical lesson. Description Annotation: During the practical class students get acquainted with the rules of the study course, the rules of using the microscope. By analyzing micro-slides of different cells, students become acquainted with the diversity of living organisms, as well as the relationship between different cell structures and their functions. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Cell transport. Laboratory work: cell osmotic transport. Independent work: preparation of the protocol of the practical lesson. Description Annotation: Students perform laboratory work - prepare native micro slides with animal and plant cells, placing them in saline solutions of various concentrations (hypertonic, isotonic and hypotonic), observing the changes in the cells under the microscope. During and after the lesson, independent students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Microslide analysis: The structure of human nucleus; Mitosis in plant and animal cell; chromosomes. Independent work: preparation of the protocol of the practical lesson. Description Annotation: Students examine microslides with metaphase chromosomes, mitosis in plant and animal cells, perform analysis of observations, discuss the theoretical basis of the lesson. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Microslide analysis: meiosis and gametogenesis. Independent work: preparation of the protocol of the practical lesson. Description Annotation: During the lesson, students analyze various micro slides that show spermatogenesis and oogenesis, make observations and discuss the theoretical rationale for the lesson. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Colloquim: cell biology. Molecular basis of heredity. Nucleic acids. DNA replication. Transcription, translation. Genetic code. Tasks of clinical cases. Independent work: preparation of the protocol of the practical lesson. Description Annotation: During the lesson, students write a colloquium. In the second part of the lesson, students discuss and analyze clinical tasks that use the central dogma of molecular biology. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Genetic problem solving, based on Mendel’s laws of inheritance. Dominant and recessive traits – problem solving. Description Annotation: During the lesson, students discuss different types of inheritance, analyze the risk of inheritance for next generations in the form of clinical tasks.

Pedigree analysis. Genetic problem solving, based on types of inheritance. Independent work: preparation of the protocol of the practical lesson. Description Annotation: During the lesson, students analyze the pedigrees of different types of inheritance, predict the risk of inheritance of the disease or signs for next generations. During and after the lesson, students prepare a lesson report, which is submitted within the set deadline for assessment, which is 4% of the cumulative final grade.

Colloquium: medical genetics. Self-studies: presentation of pedigrees Description Annotation: Independent work: students prepare a 3-5 slide Power Point presentation on a genetic disease at home from a list of diseases previously included in e-studies. The presentation includes: a brief description of the disease (cause, pathogenesis and symptoms); a hypothetical pedigree, including at least 3 generations; risk prediction for different members of the pedigree