SYLLABUS ‘The academic year when the cycle of instruction 2014/2020 [EU] MEDICAL GENETICS Module code | LK.3.C.005 TFacuity of Medicine with Dentistry Division Il Faculty of Medicine with English Language Division Major: Medical Specialty: fae Taare 1 Gace si) W Waser se) integned Master ses XT Mode of study : fulltime X Year of study: POW Om XIVO VO vin | Semester:| f) 7, 3445 8X87 88 Module/eourse type: | obligatory X elective fone, ot Polish) foreign X Form of education Hours Lecture 10 Seminar : Laboratory class 25 E-learning Practical class Internship Student's work input Stadent’s hourly workload (emcption incl, option oman) 1. irelass 35 2, Student's own work 30 Summary of the student™s workload 85 ECTS points for module/course 3 Students shall be able to: Order appropriate laboratory genetic tests, Generate an appropriate differe diagnosis, Learn the common presenting signs for the various forms of mitochondrial disorders, Identify recent advances in genetic discovery (eg, new tests, treatments), Account for the molecular mechanisms regulating and controlling cell division and the cell cycle and exemplify how extracellular signals affect cell division, Explain how molecular defects in a cell can lead to its development into a cancer cell, Describe the general principles of gene organization and expression, Explain various levels of gene regulation and protein function. Students shall be able to account, explain and describe with the terminology used in research literature. ‘The matrix of learning outcomes for module/ subject with reference to verification methods of the intended educational outcomes and forms of instruction:i Methods of Format Learning | 4 student who has obtained a credit for the module/course has | __,Yetifving the instruetion outcome | A Sydent who achievement of the code ie intended learning | — * providethe outcomes: sy written exam | (MCQ, matching knows the function of nucleotides in a cell, primary | test, true false test) wot and secondary structures of DNA and RNA and eee a ewwisy | shromatin structure; true/false test, open questions) | presentation Knows the function of human genome, transcriptome | weisen exam and proteome and basic methods applied in their (MCQ, matching woo | Studies; describes the processes of replication, repair fest: true tales feet) and recombination of DNA, transcription and Sey (MCQ, | Lecture/class true/false tes, (8.14) | translation and degradation of DNA, RNA and proteins; | Nisstiong) knows the concept of gene expression control; | | presentation ‘writfen exam (MCQ, matching describes basic katabolic and anabolic pathways, test, true false test) wo3 methods of their control and the effect of genetic and |. wiz Mica, | Lectureclass (wis) | environmental factors; trae test, open questions) presentation i written exam (MCQ, matching wos | K”Ws such processes as: cell cycle, proliferation, pee tie aie a) differentiation and aging of cells, apoptosis and short quiz(MCQ, | Lecture/class . true/false test, open B.W22 , ons; false test, a ) | necrosis and their significance for the body functions; | questions) presentation ‘written exam (MCQ, matching test, true false test) wos knows the basic concepts in genetics; eae meas oases | cw true/false test, open | questions) presentationwor (CW2) can describe the phenomena of gene feedback and cooperation; ‘written exam (MCQ, matching test, true false test) short quiz (MCQ, true/false test, open questions) presentation Lecture/elass wos (C\W3) can describe normal human karyotype and various types of sex determination; ‘written exam (MCQ, matching test, true false test) short quiz (MCQ, true/false test, open questions) presentation Lecture/class ‘woo (C.W4.) can describe chromosome structure and molecular background of mutagenesis; written exam (MCQ, matching test, true false test) short quiz (MCQ, true/false test, open questions) presentation Lecturelelass wil (C.W6) knows genetic predispositions associated with human blood groups and serological conflict in respect to Rhesus factor; written exam (MCQ, matching test, true false test) short quiz (MCQ, true/false test, open questions) presentation Lecture/class wi2 (CWT) can describe autosomal and heterosomal aberrations causing diseases, including cancer, oncogenesis; ‘written exam (MCQ, matching test, true false test) short quiz (MCQ, true/false test, open questions) presentation Lectureiclass wi4 (c.w9,) knows fundamentals of diagnosing gene and chromosomal mutations responsible for inherited and acquired diseases, including cancers; ‘written exam (MCQ, matching test, tue false test) short quiz (MCQ, true/false test, open questions) presentation Lecture/class‘written exam (MCQ, matching knows the possibilities of modern cancer therapy ( fest, true false test) including multimedia therapy), prospects of cell and | short quiz (MCQ, | Lecture/class " true/false test, open (E.W25.) | gene therapies and their adverse effects; iodo w20 presentation written exam (MCQ, matching test, true false test} knows the types of biological materials used in i i W22 | laboratory diagnostics and the principles of specimen —— Lecture/class true/false test, open (E.w37) | collection; questions) presentation short quiz (MCQ, true/false test, open qualitative analysis, titration, calorimetry, pH metry, | questions) chromatography, protein and nucleic acid (B.U10.) | electrophoresis ; makes use of basic laboratory techniques, such as vol Lecture/class/ presentation lab completion of a given assignment short quiz (MCQ, true/false test, open juestions) U04 | is capable of taking decision on the need to perform | ectarelclase (cur) | Ytegenetic and molecular tests; presentation lab | completion of a given assignment | 2 os Lecture/elass/ can work in a grou ge Kor and Sek. | sos | | 2 ff Lecture/elass! | Koz | actively participates in classes B05 Boge lab Buos ote Lecture/elass! KO03 prepares himself for classes 25 SSS. | wb Bess EXAMPLES OF METHODS VERIFYING THE ACHIEVEMENT OF THE INTENDED LEARNING OUTCOMES In terms of knowledge: Oral exam (non-standardized, standardized, traditional, problem-based). Written exam ~ the student produces/identifies answers (essay, report: structured short-answer questions /SSQ/; multiple choice questions /MCQ/; multiple response questions /MRQ!: matching tes; true/false test; apen cloze test) In terms of skills: practical exam; Objective Structured Clinical Examination /OSCE/; Mini-CEX (mini clinical examination); completion of a given assignment; project, presentation. in terms of social competences: ‘A reflective essay; an extended observation by a supervisortutor; 360-degree assessment (feedback from teachers, peers, patients, other co-workers); self-assessment (portfolio included) ai Course content: (use keywords referring to the content of each class following the intended learning outcomes)Lectures LTypes of RNA. Role of non-coding RNA. MicroRNAs — their biogenesis and function, miRNAs as prognostic and predictive factors; PROF. AGATA FILIP 2. Chromosome analysis ~ meiosis and mitosis, cell cultures, classical cytogenetics (banding techniques), molecular cytogenetics ~ FISH, CGH, array CGH; PROF. AGATA FILIP | 3. Immunogenetics; DR. SZYMON ZMORZYNSKI 4, Prenatal diagnostics ~ aims, indications, noninvasive and invasive testing techniques, preimplantation testing; PROF. AGATA FILIP 5. Molecular methods in medical genetics; DR. SZYMON ZMORZYNSKI | | Laboratory lass: LAB 1 [2 hours] SUBJECT: RULES AND REGULATIONS. INTRODUCTION TO GENETICS TOPICS: 1) Rules and regulations I) Basic terms: genetics, nucleic acid, DNA and RNA, DNA replication, DNA polymerase, helicase, DNA ligase, gene, allele (dominant and recessive), codominant alleles, exon, intron, transcription, reverse transcription, RNA polymerase, translation, homozygous (dominant and recessive), heterozygous, hemizygous, chromatin, chromosome, genome, genotype, phenotype, haplotype, haploid cells, diploid cells, mitosis, meiosis, mutation, polymorphism, single nucleotide polymorphism (SNP), genetic anticipation. Il) Types of genetic diseases: chromosome disorders, single-gene disorders, multifactorial disorders, mitochondrial disorders OBLIGATORY BOOK: “Human genetics: from molecules to medicine” C.P. Schaaf, J. Zschocke, L. Potocki- Lippincott | Williams & Wolters Kluwer business, 2012 (first edition). ISBN-13: 978-1-60831-671-7 and ISBN-10: 1-60831.671-8. CHAPTER: Glossary. OR “Medical genetics” L.B. Jorde, J.C. Carey, MJ. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTERS 1 and 2 1AB2 [2 hours} SUBJECT: HUMAN GENOME TOPICS: 1) DNA structure (nucleotides, base pairing, DNA as a double helix} Il) Nuclear genome: -the structure of genes. Gene families. Protein coding genes, RNA-coding genes -non-coding DNA: satellite DNA, minisatellite DNA, microsatellite DNA, transposons (SINEs, LINEs, LTR, DNA transposons). The role of transposable elements in development of genetic disorders. Use of microsatellite DNA in forensic genetics (DNA fingerprinting vs. next generation sequencing). Il) Mitochondrial genome: -mitochondrial function -protein coding genes, RNA-coding genes -mutation rate -mitochondrial inheritance -examples of mitochondrial disorders - myoclonic epilepsy with ragged red fibers syndrome (MERRF), Leber’s hereditary optic neuropathy (LHON), Kearns-Sayre syndrome (KS). OBLIGATORY BOOK: “Human genetics: from molecules to medicine” C.P. Schaaf, J. Zschocke, L. Potocki - Lippincott Williams & Wolters Kluwer business, 2012 (first edition). IS8N-13: 978-1-60831-671-7 and ISBN-10: 51-60831-671-8. CHAPTERS: 2.1 DNA, 2.2 Genes, 2.3. Repetitive sequences, 5.5 Mitochondrial inheritance. OR | “GENETICS” Ronald W. Dudek — Lippincott Williams & Wolters Kluwer business, 2010. ISBN 978-0- | 7817-9994-2. CHAPTERS: 1, The human nuclear genome (I-General features; lI-Protein-coding genes; Ill-RNA-coding genes; V-Non-coding DNA); 2. DNA packing (I-Biochemistry of nucleic acids; I-Double helix DNA) 3. Mitochondrial inheritance. oR “Medical genetics” L.B. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- | 188835-7 CHAPTERS 2 and 5 LAB3 | [2 hours] SUBJECT: CHROMOSOMES AND THEIR ABERRATIONS TOPICS: 1) Chromosome structure and classification (depending on centromere localization). Il) Numerical chromosome abnormalities (aneuploidy, euploidy, meiotic nondisjunction, anaphase lag, mosaicism). Il) Structural chromosome abnormalities (deletions, duplications, inversions, translocations, isochromosome, Robertsonian translocation, balanced/unbalanced aberrations), marker chromosomes. IV) Cytogenetic nomenclature. OBLIGATORY BOOK: “Human genetics: from molecules to medicine” C.P. Schaaf, J. Zschocke, L. Potocki - Lippincott Williams & Wolters Kluwer business, 2012 (first edition). ISBN-13: 978-1-60831-671-7 and ISBN-10: 1-60831-671-8. CHAPTERS: 2.7. Chromosomes, 3.2. Types of mutations, 3.3. Numerical chromosome abnormalities, 3.4. Structural chromosome abnormalities, 4.4 Mosaicism OR “Medical genetics” L.B. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTERS 2 and 6 apa (2 hours} SUBJECT: CHROMOSOME ANALYSIS TOPICS | 1) Methods of chromosome analysis Il) Source of cells for chromosome analysis Il) Cell cultures IV) Classical cytogenetics (6-banding, R-banding) V) Molecular cytogenetics ~ FISH and its variants, CGH and array CGH. OBLIGATORY BOOK: “Human genetics: from molecules to medicine” C.P. Schaaf, J. Zschocke, L. Potocki - Lippincott Williams & Wolters Kluwer business, 2012 (first edition). |SBN-13: 978-1-60831-671-7 and ISBN-10: 1-60831-671-8. CHAPTERS: 15.1. Cytogenetics, 15.2. Molecular cytogenetics. oR “Medical genetics” L.B. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTERS 2 and 6 SOURCE of LEARNING: Material from lecture (prof. Agata Filip) LABS [2 hours} SUBJECT: POINT MUTATIONS AND POLYMORPHISMS TOPICS::— point mutation, somatic mutation, germline mutation, constitutional mutation, missense mutation, nonsense mutation, splice mutation, frameshift mutation, null mutation, silent mutation, de novo mutation, copy number variation, gene amplification, gain of function, loss of function, haploinsufficiency | il) frameshift mutations — in the case of Duchenne muscular dystrophy; in frame mutations | of Beckers muscular dystrophy | ll) Location of mutations and their possible effects (location within different part of a gene: promoter region, introns, exons, regulatory regions). Ill) Induced mutations - biological, chemical (base analogs, acridine dyes, nitrous acid) and physical factors (ionizing radiation and non-ionizing radiation, pyrimidine dimers). The effect of radiation on mutation rates IV) Spontaneous mutations — dynamic mutations, genetic anticipation, permutation status; genetic cause of fragile X syndrome and Huntington disease. ion vs. polymorphism. Single nucleotide polymorphisms. al consequences of mutation ~ the hemoglobin disorders: sickle cell anemia, thalassemia (a and in the case Vil) DNA Repair (types and general overview), Xeroderma pigmentosum ~ a disease of faulty DNA repair. OBLIGATORY BOOK: “Human genetics: from molecules to medicine” C.P. Schaaf, J. Zschocke, L. Potocki - Lippincott Williams & Wolters Kluwer business, 2012 (first edition). ISBN-13: 978-1-60831-671-7 and ISBN-10: 1-60831-671-8. CHAPTERS: 1.2. Frequency of genetic diseases, 3.1. Mutation or polymorphism? 3.5, Gene mutations, 3.6 Dynamic mutations, trinucleotide repeats. OR “Medical genetics” L.B. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTERS 3 and 5 laB6 | (2 hours} SUBJECT: PATHOMECHANISMS OF GENETIC DISEASES TOPICS: | 1) Terms: pleiotropy, genetic heterogeneity, expressivity, variable expressivity, penetrance, epistasis, polyphenism, monogenic, digenic, polygenic, loss of heterozygosity Il) Semidominance (incomplete dominance) in the case of familial hypercholesterolemia and complete dominance ~ in the case of Huntington disease I) Heterozygote advantage in the case of sickle cell anemia IV) Codominance in the AB0 blood group system. Pseudogene ~ allele d in Rh system. \V) Dominant negative effect in the case of osteogenesis imperfecta and Marfan syndrome VI) DNA replication and aging effects — function of enzymes involved in DNA replication (DNA topoisomerase, helicase, DNA polymerase, DNA ligase), leading strand and lagging strand; telomeres and function of telomerase; telomere shortening, accumulation of mitochondrial mutations. Vil) Human progeria syndrome — Werner syndrome. OBLIGATORY BOOK: “Human genetics: from molecules to medicine” C.P. Schaaf, J. Zschocke, L. Potocki - Lippincott Williams & Wolters Kluwer business, 2012 (first edition). ISBN-13: 978-1-60831-671-7 and ISBN-10: 1-60831-671-8. CHAPTERS: 2.1. DNA ~ Replication of DNA, 4.1. From genotype to phenotype, 4.2. Dominant and recessive, 8. Aging and Genetics. or “Medical genetics” L.B. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTER 4 \aB7 (2 hours] SUBJECT: FROM GENES TO PROTEINS| TOPICS: | 1) TERMS: promoter, enhancer, silencer, primary transcript, mature transcript, gene splicing, alternative splice sites, transcription factors, DNA-binding motifs, housekeeping genes, genetic code, codon and | anticodon | Il) Posttranslational modifications in the case of Osteogenesis imperfecta (an inherited collagen disorder and its genetic cause). The process of collagen fibril formation | Ill) The concept of phenotype. Gene expression and mutations ~ classes of CFTR gene mutations in cystic fibrosis. |\) Factors that affect expression of disease — new mutations in the case of achondroplasia, age | dependent penetrance ~ in the case of Huntington disease, variable expression — in the case of neurofibromatosis (type | and Il), locus heterogeneity and germline mosaicism (both) - in the case of osteogenesis imperfecta, pleiotropy — in Marfan syndrome OBLIGATORY BOOK: “Medical genetics” L.B. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTERS 2, 3 and 4 ABB [2 hours) SUBJECT: ONCOGENESIS — PART | TOPICS: 1) Oncogenic transformation — definition, stages of transformation and their characteristics. Il) Cancer cell characteristics. Ill) Tumor classification with respect to biology and histology. 1V) Benign and malignant tumors - differences. V) Apoptosis and necrosis VI) Molecular pathway of tumor development: oncogenes — types, mechanisms of activation, examples, Vil) Molecular pathway of tumor development: tumor suppressor genes - types, mechanisms of activation, examples. Vill) microRNA ~ definition, structure and role in oncogenesis. XIX) Role of angiogenesis in tumor development, pro- and antiangiogenic factors. X] Metastases - stages of development, sites. OBLIGATORY BOOK: “Medical genetics” LB. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTER 11 lAB9 (2 hours] SUBJECT: ONCOGENESIS ~ PART II ToPics: 1) Two-hit hypothesis for tumorgenesis. Il) Cancer predisposition ~ role of germline mutations Ul) Familial cancer Lynch syndrome, retinoblastoma, breast cancer, familial adenomatous polyposis of colon, hereditary diffuse gastric cancer, Li-Fraumeni syndrome IV) molecular tests in cancer predisposition (germline mutations) V) molecular lesions as prognostic and predictive factors VI) targeted treatment OBLIGATORY BOOK: “Medical genetics” L.B. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTER 11 LAB 10 {2 hours) SUBJECT: IMMUNOGENETICSTOPICS: 1) The humoral and cellular immune systems Il) types of gene expression — biallelic and monoallelic expression, allelic exclusion Nl) Immunoglobulin molecules and genes, the genetic basis of antibodies (multiple germline segments, somatic recombination, junctional diversity — N nucleotides vs. P-nucleotides, somatic hypermutation, random combinations of heavy and light chains), expression of immunoglobulin genes (allelic exlusion and kappa/lambda exclusion), synthesis of IgM and IgO in B-cells by alternate splicing (RNA event), heavy chain class switching (DNA rearrangement event, class switching sequences). Function of RAG1 and RAG2 proteins, activation-induced cytidine deaminase, terminal deoxynucleotidyl transferase. Difference | between immunoglobulin and B-cell receptor structure (s-sequence vs. M1 and M2 sequences in C- segment) 1V) T-cell receptor (TCR) molecules and genes ~ TCR genes, multiple germline segments, somatic recombination, junctional diversity, allelic exclusion, TCR vs. immunoglobulin structure and function V) The major histocompatibility complex (MHC) - function of MHC class | and Il, genetic mechanisms responsible for MHC diversity ~ polygenism, polymorphism, codominance. Terms: MHC restriction, MHC pseudogenes OBLIGATORY BOOK: “Medical genetics” L.B. Jorde, J.C. Carey, M.J. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTER 9 SOURCE of LEARNING: -Lecture “immunogenetics” (Dr. Szymon Zmorzyriski) LAB 11 (2 hours) SUBJECT: Molecular methods TOPICS: 1) Examples of biological material for nucleic acid isolation i) Restriction enzymes: -names, types I-IV, blunt ends, sticky ends (5’-overhang and 3'-overhang) -examples: Alul, Smal, BamHI, EcoRI, Pstl, Taql Il) Detecting variation at DNA level: Southern blotting and restriction fragment analysis, tandem repeats polymorphisms, single nucleotide polymorphisms, copy number variants IV) DNA sequencing technique, next generation sequencing (high-throughput DNA sequencing), examples of disorders diagnosed by use of sequencing techniques V) PCR METHOD (general procedure and stages), PCR multiplex, reverse transcription PCR, real time PCR, PCR-RFLP -diagnostics of sickle cell anemia VI) Genetic testing - heterozygote screening, direct mutation analysis. Limitations of genetic testing. OBLIGATORY BOOK: “Medical genetics” L.B. Jorde, J.C. Carey, MJ. Bamshad (fifth edition), ELSEVIER, ISBN 978-0-323- 188835-7 CHAPTERS 3 and 13 SOURCE of LEARNING: -Lecture “molecular methods” (Dr. Symon Zmorzytiski) 1AB 12 [2 hours] | SUBJECT: Medical cases TOPICS: Diagnosis of: 1) CHROMOSOMAL DISORDERS: -Down syndrome, Turner syndrome, Klinefelter syndrome, Patau syndrome, Edward's syndrome, cat's cry syndrome, Prader-Willi syndrome, Angelman syndrome. II) AUTOSOMAL DISORDERS: -Oculocutaneous albinism (type | and II), cystic fibrosis, galactosemia (type 1), Gaucher disease,| hemochromatosis (type I), phenylketonuria, sickle-cell anemia, Tay-Sachs disease, the thalassemias, | familial hypercholesterolemia, achondroplasia, Apert syndrome, Huntington disease, neurofibromatosis type 1 and type 2, Marfan syndrome, osteogenesis imperfecta. III) X-LINKED DISORDERS: -glucose-6-phosphate dehydrogenase deficiency (G6PD), hemophilia A, hemophilia B, Duchenne muscular dystrophy, Becker muscular dystrophy, Menkes disease, Lesh-Nyhan syndrome, Bloch-Sulzberger disease (incontinentia Pigmenti), Rett syndrome, hereditary hypophosphatemic rickets LAB 13 | (1 hour} SUBJECT: Written quiz. Points calculation (before the final test). Obligatory literature for lectures: 1.LB. Jorde, J.C. Carey, M.J. Bamshad “Medical Genetics (4th edition)” MOSBY ELSEVIER, 2016; 2. “Human genetics: from molecules to medicine” C.P. Schaaf, J. Zschocke, L. Potocki - Lippincott Williams & Wolters Kluwer business, 2012 (firsth edition). 3. “GENETICS” Ronald W. Dudek — Lippincott Williams & Wolters Kluwer business, 2010. ISBN 978-0-7817- 9994-2. Obligatory literature for labs: 1. L.B. Jorde, J.C. Carey, M.J. Bamshad “Medical Genetics (4th edition)” MOSBY ELSEVIER, 2016; 2. "Human genetics: from molecules to medicine” C.P. Schaaf, J. Zschocke, L. Potocki - Lippincott Williams & Wolters Kluwer business, 2012 (firsth edition). 3. “GENETICS” Ronald W. Dudek ~ Lippincott Williams & Wolters Kluwer business, 2010. ISBN 978-0-7817- 9994-2. Requirements for didactic aids (multimedia projector, movie camera, etc.) Laptop and multimedia projector. | Conditions for obtaining a credit for the subject: |. GENERAL RULES 1. A Student is obliged to come for classes on time and can NOT enter the class, if the time of delay exceeds 10 minutes. 2. The lectures are mandatory. Student with more than 1 absence will NOT receive a credit for lectures, even if all the absences are justified. 3. Students are obliged to be prepared earlier for each class according to the topics. 4, Classes (from 2” to 11") will be ended with a short quiz. 5, The classes are mandatory. -More than 2 absences during the course are not allowed. The student with more than 2 absences at classes cannot take the Final Test, and will not pass a semester, even if all the absences are justified. -A medical certificate or other documents must be provided to respective Teachers. If a medical certificate or other documents are not presented, an absence will be registered as an unjustified one. -If an absence is unjustified a Student can NOT take a short quiz -IF an absence is justified (original document with medical stamp), a Student is obliged to take a short aula within three weeks from the date ofa misted clas, I = documented absence lasts continuously for | more than two weeks, a Student is obliged to take missed short quizzes in appropriate terms with a respective Teacher. The student loses the right to take a short quiz, if the material from missed class is not | passed within the obligatory period. | 6. Using mobile phones, making a photos and recording during the classes are prohibited. Students who use mobiles or other recording devices without teacher's permission receive NEGATIVE POINTS (up to -10 POINTS / USAGE). 7. Students are obliged to change shoes while taking the classes at the Department. J 108. Bad behaving students are forbidden to participate in classes and take the quiz. The teacher is allowed to turn student out of the classroom. lI, ABOUT CLASSES 41. The Student is obliged to prepare one presentation during the semester. The terms and subjects of presentations are established by the Teacher at the first class. 2. The student must prepare presentation according to the list of topics, available on the website www.genetyka.umlub.pl. | 3. Student, who presents a respective presentation, receives points (from 0 to 10 points) and is exempted from respective short quiz. The rest of Students write short quiz. 4, Presentation evaluation Presentation evaluation sheet Total score: 10 points Compatibility of the presentation with the obligatory Up to 1 point topics Engagement of the group in the topic Up to 1 point The presence of the illustrations and/or short animations. Up to 2 points | The way of the presenting — speaking instead of reading Up to 2 points | from the slides. | The knowledge of the student — teacher will evaluate Up to4 points | answers to short questions. | 5. If student is absent during presentation time, he/she will write modified short quiz consists of 5 | descriptive questions (2 points for each correct answer) and is obligated to write essay on a topic chosen | by the teacher. A student has one week from the date of a missed class to take a modified short quiz and | to write an essay. Ill, THE SCORE SYSTEM. A) GENERAL OVERVIEW 1, Students are obliged to be familiar with the issues covered by the lecture held during respective week and with the material to be discussed during classes according to the topic schedule. 2. Classes (from 24 to 11") will be ended with a short quiz. Student can receive 10 points from each short quiz. Short quiz consists of 8 questions including: -4 multiple choice questions (1 point for each correct answer], -2 false/true questions (1 point for each correct answer}, -2 open questions (up to 2 points for each correct answer). 3. Students have two weeks from the day when they took quiz to review it together with the teacher. 4. CLASSES - total score The total score (final score) is 100 points (means 100%). During 10 classes with quizzes (2%-11" class) Student can receive 100 points. 5. To pass the genetics course the mean of 60% (60 points) from all short quizzes is required. B) EXTRA POINTS 6. CREATIVE ACTIVITY For an activity during classes (from 1* to 11") Student can receive 5,5 points. It means 0,5 for one | activity (A). During each class Student can receive one activity (A). 7A. CLASSES (from 1" to 11") - extra points Student will receive an additional 1,5 extra point to the final score for two conditions: -punctual arriving for classes and | -having no unexplained absences. | A Student will not receive 4,5 extra point to the final score for having even one delay or an unexplained | absence. 7B. CLASS NO, 12 ~ extra points. The class no. 12 is NOT obligatory. During this lab a student can receive 1 point for an activity. The 12th class will end with a short descriptive quiz. DESCRIPTIVE QUIZ (only class 12th) consists of 1 clinical case (to aim: point symptoms, indicate diagnostic a| the classes is less than 60% (60 points), but more than or equal | quiz consists of 5 descriptive questions. The maximal number of the p: methods, make a correct diagnosis etc.). Student can receive 5 extra points from descriptive quiz. 8. LECTURES ~ extra points Student will receive an additional 1 extra point to the final score for two conditions: -punctual arriving for lectures and -having no absences A Student will not receive 1 extra poi to the final score for having even one delay or an unexplained absence. 9, EXTRA POINTS ~ summary CLASSES or LECTURES L EXTRA POINTS CLASSES (from 1*t0 1") | ——_i.S point + 5,5 points = 7 points CLASS NO. 12 5 points + I point = 6 points LECTURES 1 point TOTAL NUMBER 14 points C) WRITTEN QUIZ AND EXEMPTION 10. Final score is calculated with extra points before Written quiz. 11. WRITTEN QUIZ A Student is obliged to take a WRITTEN QUIZ (material from the whole semester), if the final score from 40% (40 points). The written s possible to collect is 20 (0-4 | points for each question). The sum of all the collected points gives a final score. Only a Student who gains | at least 60 points (or more) can take the final te | 12. A Student who gains at least 85% (85 points) through the whole semester is exempted from the Final | Test. A student with 85-90 points is exempted with more than good (4.5) final score. A student with more than 90 points (90<) is exempted with very good (5.0) final score. 13. If Student takes a written quiz, she/he can NOT be exempted from the Final Test even having 85 points or more. IV. THE FINAL SCORE AND THE FINAL TEST 1. The Students with final score between 69-84,5 points receive extra point/points for Final Test, as follows: EXTRA POINT/POINTS FOR eee THE FINAL TEST 83-845 points 4.0 points 81-82,5 points 3.5 points 79-805 points 3.0 points: 77-78,5 points 2.5 points 75-765 points 2.0 points 73-74,5 points 1.5 point 71-72,5 points 1.0 point 69-70,5 points 0.5 point 2. The Final Test consists of 29 questions. It means: -28 multiple choice questions including 20 questions from all classes and 8 questions from lectures (1 point for each correct answer) and -1 written question with medical case (up to 2 points for correct answer). 3. A student can receive 30 points from the Final Test. 4. To PASS the Final Test, the required final score is 60% (18 points) of correctly answered questions out ofall questions. Students that fail the first Final Test exam will be given another test. Only two retakes are possible. Rules and Regulations of the Department: FINAL TEST - FINAL SCORE (2016/2017) 100% -91% 5.090% - 85% 4.5 84%-75% 4.0 74% -10% 3.5 69% - 60% 3.0 59%> 2.0 Students that fail the first Final Test exam will be given another test. Only two retakes are possible. ‘The name and address of the department/elinie where the course is taught (module/course); contact details (phone number/ email address): DEPARTMENT OF CANCER GENETICS WITH CYTOGENETIC LABORATORY Address: RADZIWILLOWSKA STREET 11 (COLLEGIUM MEDICUM BUILDING), 20-080 LUBLIN, Telifax: 81 44 86 100 e-mail: s.zmorzynski@gmail.com Course: MEDICAL GENETICS Head of Department: PROF. AGATA FILIP ‘The course coordinator: DR. SLYMON ZMORZYNSKI, e-mail: szmorzynski@gmail.com ‘Telephone: 81 448 6103 ‘Names of the author/authors of this syllabus: dr. Szymon Zmorzyiski Names of the teacher/teachers conducting classes: ‘Agata Filip, PhD Szymon Zmorzytiski, PhD Sylwia Popek, MA Signature of the head of the department/clinie Dean’s signature Pelomecsik Mae abe Kate KIEROWNIK NM Wsariate Lekars Zaktadu Geneiyki Nowotworow 2 Other Anglajgr cag om 2 Pracownia Cylagenctyerts Ps Prof dr haba. WG? avogaiow Lanecski we Hayea MT} Date of submission: B