Download МІНІСТЕРСТВО ОХОРОНИ ЗДОРОВ`Я УКРАЇНИ

MINISTRY OF EDUCATION AND SCIENCE OF UKRAINE
V. N. KARAZIN KHARKIV NATIONAL UNIVERSITY
DEPARTMENT OF GENERAL PRACTICE-FAMILY MEDICINE
«APPROVED»
Prorector of V. N. Karazin Kharkiv National University
professor _______________V. V. Aleksandrov
«______»_______________________ 2014
CURRICULUM DOCUMENT
OF DISCIPLINE
«MEDICAL GENETICS»
FOR SCHOOL OF MEDICINE 5TH YEAR STUDENTS
ECTS credit system
in training process
Medical genetics. Curriculum document of discipline for students – Kharkiv.:V. N. Karazin Kharkiv
National University, 2014 – 22 p.
2
Developed by:
A. M. Fedota, Doctor of Biological Sciences, Professor of the Department of General practice-family
medicine
E. Ya. Nikolenko, Doctor of Medical Science, Professor, Head of the Department of General practicefamily medicine
V. M. Savchenko, Professor of the Department of General practice-family medicine
L.V. Beliaeva, Cand. Sc. in Biology, Associated professor of the Department of General practice-family
medicine
Curriculum document is approved by the decision of the Council of Department of General practicefamily medicine
Prot No. ______ at «_____»________________2014
Head of the Department
____________________
«_____»________________2014
Approved by the school of medicine metodic committee.
Prot. No. ______ at «_____»________________2014
Head of the committee
____________________
«_____»________________2014
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1. EXPLANATORY NOTE
Under the provisions of modern medicine, any pathology in humans is associated with heredity.
This is the basis for teaching and studying the medical genetics as a clinical and preventive discipline.
Since heredity and variation are essential components of life, the genetics should be the basis for
theoretical and clinical training. The steady increase in percent of inherited diseases in the population
structure of morbidity, mortality and disability determines the need for medical genetic knowledge in
physician training.
Integrating genetic knowledge and clinic experience is the main concept of medical genetics
course in medical universities.
In this regard the educational activities should be aimed at helping students to use previously
acquired theoretical knowledge of genetics in clinical practice, completion the medic and clinical genetic
knowledge – particularly, contemporary issues of diagnosis, treatment and prevention of hereditary
pathology, investigation of "new" common nosological forms of inherited diseases.
Since training in medical genetics is carried out during the 9th and 10th semesters of the fifth year
of study the unified program for Medical Genetics in Ukrainian higher education institutions of the III
and IV accreditation levels is made for the following specialties within direction 1101 "Medicine":
"Medical Care" 7.110101, "Pediatry" 7.110104 "Medical and Preventive Care" 7.110105.
The program corresponds the following regulations: educational qualification characteristics
(EQC) and educational vocational programs (EVP) on training specialists, approved by order from MHC
of Ukraine, dd. 16.04.03 No 239 "On approval of components for sectoral standards of higher education
in training direction "Medicine" – 1101", and experimental curriculum based on the principles of the
European Credit Transfer and accumulation system (ECTS), approved by order from MHC of Ukraine
dd. 31.01.2005 No 52 "On approval and introduction of the new curriculum on training specialists at
educational qualification level "specialist" qualification "doctor" at higher schools of III-IV accreditation
levels in Ukraine due to specialties "Medical Care", "Pediatry", "Medical and Preventive Care".
The program is structured and consists of modules, structural modules, Topics, in accordance with
the requirements of "Recommendations on development of academic programs for academic disciplines"
(order from MHC of Ukraine, dd. 12.10.2004 No 492).
The educational process is carried out according to the ECTS credit system according to the
Bologna process.
The structure of program "Medical Genetics" includes a module comprising blocks of content
modules.
Module 1. Medical Genetics
Content modules:
1. Hereditary and pathology. Role of heredity in human pathology.
4
2. Techniques of medical genetics.
3. Propedeutics of congenital defects. Techniques of phenotype description. Syndrome-based analysis.
4. Single-gene human diseases.
5. Chromosomal diseases.
6. Mitochondrial diseases.
7. Genetic predisposition to disease.
8. Prevention of inherited diseases. Medical and genetic counseling, prenatal diagnosis.
The student learning activities according to the curriculum are: a) lectures, b) practice c) selfinstruction (SIS), including the important ones – teachers’ consultations. Thematic plan of lectures,
tutorials, SIS ensure implementation in the educational process of all content modules Topics .
Topics of the lectures reveal problem areas in relevant sections of the medical genetics.
Tutorials suggest:
1.
Learning how to examine patients and their relatives, aimed to detect congenital and inherited
diseases, clinical features of inherited diseases and patients’ status, to evaluate the diagnostic and
prognostic value of appearing symptoms and morphogenetic variants (development abnormalities).
2.
Learning the clinical and genealogical method, correct collection of genetic history data, drawing the
pedigree, determining the type of inheritance.
3.
Understanding the nature of human diseases having the genetic component, their etiology,
pathogenesis, causes of wide clinical polymorphism of forms with common etiology and genetic
heterogeneity of clinically similar conditions.
4.
Learning the approaches and methods for detecting the individuals at increased risk for multifactorial
diseases.
5.
Gaining the knowledge and mastering skills of diagnosis the most common forms of inherited
diseases.
6.
Understanding the goals, awareness of the methods and capabilities of medical and genetic
counseling, prenatal diagnosis and screening programs.
7.
Understanding the goals and capabilities of modern cytogenetic, biochemical and molecular genetic
diagnosis methods.
8.
Knowledge of the principles of interaction between medical genetic services and all public health
practice services, and indications for organization the patient flow.
Current students’ educational activities is supervised during the practical studies in accordance with
specific goals whilst lecturer working individually with students.
The computer tests, situational problems solving, carrying out laboratory research with interpretation
and evaluation of the results, analysis and evaluation of the instrumental research results and parameters
characterizing the function of the human body, its organs and systems, control of practical skills are
recommended as diagnostic tools to access the level of students.
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Curriculum of the discipline “Medical Genetics”
for students studying at School of Medicine
Structure of
the discipline
Hours
Total
45
Classes
practical
lectures
studies
10
20
Year
Type of control
SIS
15
5th
ECTS credits
1,5
Module 1:
45 hours/1,5
8
content
10
20
15
ECTS credits
modules
Including final 4 hours/0,13
2
2
module control
ECTS credits
Note: 1 ECTS credit - 30 hours. Class load - 66,7%, SIS - 33,3%.
Final module control
Final module control
2. THE PURPOSE OF DISCIPLINE LEARNING
Purpose of the discipline "Medical Genetics" – the ultimate goals are based on EPP physician
training for the specialty according to its content modules (Science training) and is the basis for the course
content. Goals description is made through ability as targets (actions). Based on the ultimate goals there
are specific goals for each module or content module in form of certain skills (actions) and target figures,
which provide succeeding the ultimate goal.
The ultimate goals of discipline:
 To identify groups of risk for developing inherited diseases
 To identify evaluation algorithm for patients of high genetic risk for developing inherited diseases
 The patient examination for inherited diseases, to recognize common signs of inherited diseases, to
diagnose congenital morphogenetic variants, proper use of appropriate terminology while describing the
clinical performance and patient phenotype
 To collect medical history and genealogical data, to draw the pedigree, presenting it in graphic form
and analyzing the type disease inheritance or disease performance in the family
 To pick from the group patients for cytogenetic, special biochemical and molecular genetic studies
 To formulate a possible diagnosis of chromosomal aberrations or of the most common single-gene
syndromes and diseases, to assess the necessity for further examination, including specific genetic
methods
 To identify individuals at increased risk of multifactorial diseases
 To use of clinical and genealogical method in assessing the harmful effects of environmental factors
 To use the methods of genetics for observation (monitoring) the remote consequences of
environmental impact
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 To carry out measures preventing inherited and congenital diseases
 To carry out preventive measures for reducing the most common diseases of multifactorial nature
frequency based on genetic approaches.
3. CONTENT OF THE PROGRAM
4.1. DESCRIPTION OF THE MODULE 1 «MEDICAL GENETICS»
Content module 1. Heredity and pathology. The role of heredity in human pathology.
Specific goals:
 To know the incidence of congenital and inherited diseases in different periods of ontogeny.
 To know the proportion of congenital and inherited diseases in the structure of morbidity and
mortality.
 To learn genetic aspects of growth and development of the fetus, particularly embryonic and fetal
periods of prenatal development.
 To learn the etiology, pathogenesis, classification of congenital malformations
 To explain the genetic aspects of homeostasis
 To learn the classification of inherited diseases.
 To explain the characteristics of the inherited diseases pathogenesis due to damage nature of the
genetic structures.
 To master the content, concepts, effects of chromosomal and genomic imprinting.
 To exemplify the clinical polymorphism and modifying effect of genotype on the expression of
mutations.
 To learn the lethal effects of mutations (their importance in perinatal, infantile and child mortality, the
association with infertility, spontaneous abortion).
 To exemplify the geographic and population differences in the frequency of hereditary diseases.
Topic 1: The object and purpose of medical genetics. The role of heredity in human pathology.
The object and purpose of medical genetics. The role of medical and genetic knowledge in
physician practice. The place of medical genetics in the system of medical knowledge, the relationship of
medical genetics with other clinical disciplines. Increase in the proportion of inherited diseases in the
structure of morbidity, mortality and disability in the population. The relative increase in the number of
inherited diseases: a population genetic, environmental, social, economic and demographic aspects.
Classification of inherited diseases. Mutations as etiological factors. Genomic, chromosomal and
gene mutations. Single-gene disorders. Genetic predisposition of the ecogenetic diseases. disorders.
Somatic cell disorders. Causes of mutations. Physical, chemical, biological mutagens. Spontaneous and
induced mutagenesis (study methods, mutagenic effects of antropogenic environmental factors account
and control methods).
Heredity and pathogenesis. Genetic control of pathological processes. Inherited diseases
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pathogenesis features due to the nature of genetic structures damage. Specificity and general laws of
chromosomal diseases pathogenesis. Karyotype – phenotype correlation. General mechanisms of singlegene inherited diseases pathogenesis. The pathogenesis and risk factors of inherited predisposition
diseases, the association with Mendelian signs or markers.
Chromosome and genomic imprinting (content, concepts, effects).
Heredity and clinical performance. Clinical polymorphism and the genotype modifying effect on
the pathological mutations expression. Aspects of inherited diseases genetic polymorphism.
Sequelae of heredity and disease. Lethal effects of mutations (their importance in perinatal and
infantile mortality, the infertility association, miscarriage). Hereditary caused abnormal reactions to
different drugs. Nonspecific effects of pathological mutations.
Content module 2 .Methods in medical genetics.
Specific goals:
 To learn the principles and stages of clinical and genealogical research.
 To learn the different types of inheritance criteria.
 To offer genealogical tree for different types of inheritance: autosomal dominant, autosomal recessive,
X-linked, mitochondrial.
 To interpret karyogram in normal and pathological conditions.
 To learn chromosome staining techniques.
 To learn the types of chromosomal abnormalities: structural, numeric.
 To identify the indications for cytogenetic and molecular cytogenetic studies.
 To explain the concept of "uniparental disomy" and "chromosomal polymorphism."
 To learn the principles of screening programs.
 To learn the basic research techniques in suspected inherited metabolic disorders (IMD).
 To exemplify the importance of biochemical studies in clarifying the diagnosis IMD.
 To propose the scheme and algorithm of patient examination for suspected IMD: amino acids,
carbohydrates, connective tissue, organic aciduria.
 To describe the process of PCR as a basic technique of molecular diagnostics.
 To learn the basic laboratory techniques in molecular biology
Topic 2. Genealogical method in clinical diagnosis. Molecular cytogenetic techniques. Methods of
biochemical analysis.
Steps of clinical and genealogical analysis. Main concepts: kindred, proband, pedigree, symbols
used for pedigree. Collection of genealogical reference materials techniques; theirs features in pathology
of different types.
The value of genealogical method in clinical practice to determine the nature of the disease, to
evaluate the clinical manifestations, for differential diagnosis in pathology of inherited forms , for the
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disease genetic heterogeneity study, for assessment of new-onset disease risk in the family, for life or
disease prediction.
Criteria of different inheritance patterns: autosomal dominant, autosomal recessive, X-linked
dominant, X-linked recessive, holandric, mitochondrial. The kindred nature, sex ratio, pathology features
segregation in families. The pedigree depends on population gene frequencies. Recessive disorders and
consanguinity. The concept of "sporadic case"; possible causes of "sporadic cases" and de novo mutations
in the family. Anticipation.
Genealogical analysis in multifactorial diseases: the dependence on sex of the affected individual,
the number of affected relatives, degree of relationship to proband, the diseases’ proportion .
Cytogenetic techniques application: diagnosis of inherited diseases, mutation process study,
normal chromosome polymorphism study.
Different molecular cytogenetic techniques. The concept of karyotype. Modern methods of
chromosome analysis: prometaphase analysis, fluorescence in situ hybridization, autoradiographic
analysis, chromosome-specific and region-specific probes.
The value of cytogenetic analysis techniques in clinical practice: diagnosis of chromosomal
diseases, diagnosis of mendelian diseases associated with chromosomal instability, diagnosing cancer and
some types of leukemia, assessment of medications mutagenic effects, monitoring of harmful effects of
environmental factors.
The versatility of DNA diagnostic techniques, the possibility of their use. Characteristics of the
main methodological approaches (DNA isolation, DNA restriction, blot hybridization, sequencing). PCR,
RFLP.
Scope of molecular genetic techniques in inherited diseases diagnosis. Prenatal and preclinical
diagnosis of diseases; diagnosis of heterozygous states. Indication for use and limitation of molecular
genetic techniques. New techniques for mutations identification, DNA microarray technology.
Identification of the polymorphic sites by RFLP analysis.
The value of biochemical methods in the diagnosis of inherited metabolic disease. Levels of
biochemical diagnosis: primary gene product, cellular level, metabolites in biological fluids.
Screening diagnostic tests: qualitative and quantitative methods. List of the main methods and
their brief description (qualitative urine tests, paper and thin-layer chromatography of amino acids and
carbohydrates of urine and blood, electrophoresis, Guthrie bacterial inhibition assay, fluorometry).
Screening programs for mass diagnosis of inherited diseases and heterozygous states.
Confirmatory diagnosis. Quantitative assay of enzymes and metabolites.
Indications to biochemical assay for the diagnosis of inherited diseases.
Content module 3. Propedeutics of hereditary pathology.
Specific goals:
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 To explain the genetic heterogeneity of clinically similar disease forms .
 To exemplify the hereditary diseases with late manifestation.
 To learn the classification of developmental defects.
 To explain the consistency of violations with stages of ontogeny (hemato-, embrio-, fetopathy).
 To explain the pleiotropic gene action and inherited diseases resulting in multiple lesions.
 To learn the morphogenetic variants and value of hereditary syndromes and congenital conditions in
the diagnosis.
 To explain the concepts: syndrome, association, deformation, dysplasia.
Topic 3. Semeiology of hereditary pathology. Features of inherited diseases. Morphogenetic
variation of development. Defects.
Semeiology of hereditary pathology. Pleiotropic gene action and inherited diseases resulting in
multiple lesions. Pleiotropic effects in clinical practice. Clinical aspect of pleiotropic effects associated
with differential diagnosis of syndromic and non-syndromic pathology.
Features of patient clinical examination and examination of their relatives promoting the diagnosis
of congenital and inherited diseases. Phenotypic features, specificity of morphogenetic variants range of
inherited diseases. Anthropometry in the diagnosis of inherited diseases.
Morphogenetic variants of development (anomalies, signs, disembriogenesis): genesis and
postnatal modification. General and specific morphogenetic variants: importance in the diagnosis of
hereditary syndromes and congenital conditions.
Primary and secondary developmental defects. Isolated, system and multiple congenital
malformations. Etiological heterogeneity. The concept of syndrome, association., deformation, dysplasia.
Family as an object of medical genetic observation: a need for a family approach. The clinical
significance of incomplete penetrance and expressivity in causes structure of inherited diseases of similar
etiology. Genetic heterogeneity of clinically similar forms of disease.
Features of inherited diseases manifestation. Late manifestation of inherited diseases. Polisystemic
damage. Some treatment-resistant disease types. Consistency of violations with stages of ontogeny
hemato-, embrio-, fetopathy.
Content module 4. Single-gene disorders.
Specific goals:
 To overview the single-gene diseases’ etiology and pathogenesis.
 To learn the mechanism of single-gene diseases’ pathogenesis.
 To learn the single-gene diseases’ classification.
 To learn the classification and main presentation of inherited connective tissue deseases.
 To learn the diagnosis, symptoms and genetics presentation of Ehlers-Danlos syndrome.
 To identify the syndrome while assessing phenotype of probands with Marfan syndrome.
 To learn the classification and main presentation of hereditary neuromuscular diseases
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 To identify the criteria for diagnosis of cystic fibrosis.
 To learn the diagnosis, symptoms and genetics presentation of congenital hypothyroidism.
 To learn the diagnosis, symptoms and genetics presentation of inherited kidney disease.
 To learn the diagnosis, symptoms and genetics presentation of inherited amino acids metabolism
disorders.
 To learn the diagnosis, symptoms and genetics presentation of inherited carbohydrate metabolism
disorders.
 To learn the general characteristics of phacomatosis.
 To learn the general characteristics oncogenetic disorders.
 To learn the etiology of lysosomal storage diseases.
 To learn the general principles of inherited diseases’ treatment, patient rehabilitation and social
adaptation.
Topic 4. Overview of single-gene diseases. Clinical performance and genetics of some single-gene
diseases.
Common and rare forms. Prevalence among different groups.
Common questions of single-gene diseases etiology and pathogenesis. Gene mutation types. The
variety of genetic mutation manifestations on clinical, biochemical, molecular and genetic levels. Effects
of pre- and post-natal mutant genes transcription.
The mechanism of single-gene diseases’ pathogenesis: mutation specificity, plurality of metabolic
pathways, plurality of protein functions.
Genetic heterogeneity of clinically similar disease forms. Aspects of heterogeneity:
polyallelomorphism, polylocus.
Clinical heterogeneity of the disease form of one etiology: variation in expressivity. Clinical
diversity as a result of interaction between the individual genetic make up and environmental factors. The
concept of genetic imprinting.
The concept of genocopies, phenocopy and normocopy.
Classification of single-gene diseases: by etiology (genetic), by organ and system classes, or
pathogenetic classification.
Single-gene syndromes in multiple congenital malformations. Common symptoms. Clinical
examples. Ehlers-Danlos Syndrome, Marfan syndrome, adrenogenital syndrome. Cystic fibrosis.
Hypothyroidism. Inherited kidney diseases. Inherited skeletal system diseases. Phacomatosis: general
characteristic, classification. Diagnosis, symptoms and genetics presentation of neurofibromatosis,
tuberous sclerosis. Prevention of neoplasia. Clinical management of patients with phacomatosis.
Oncogenetic disorders: the concept, etiology and classification. Hereditary neoplasia. The mechanisms of
oncogenetic disorders, tumor growth. Prevention and clinical management of patients with oncogenetic
disorders.
11
Topic 5. Inherited kidney diseases.
Anatomy and physiology of the kidney and urinary tract in children. Inherited polycystic kidney
disease. Hereditary nephropathy. Secondary nephropathy associated with inherited metabolic diseases.
Treatment, medical and genetic counseling.
Topic 6. Skeletal system dysplasia.
Congenital and inherited skeletal system diseases. International and molecular classifications of
skeletal dysplasias. Diagnosis, symptoms and genetics presentation of Jeune syndrome, achondroplasia,
osteogenesis imperfecta, hypophosphatasia. Prenatal diagnosis and treatment of skeletal system diseases.
Topic 7. Inherited metabolism disorders. Principles of inherited diseases’ treatment, patient
rehabilitation and social adaptation.
Modern classification, a brief groups’ description, difficulties of causal classification. The
pathogenesis of inherited metabolism diseases.
Symptoms and genetic presentation of single-gene forms of certain diseases of different
inheritance types (PKU homocystinuria, galactosemia, glycogenosis, Gaucher disease, Niemen-Pick
disease): population frequency, clinical forms and variants, types of mutations, pathogenesis, typical
clinical presentation, paraclinical and laboratory methods of diagnosis, treatment, prognosis,
rehabilitation, social adaptation.
Pathogenetic and symptomatic therapy. Principles of pathogenetic treatment as the main method
of inherited disease treatment. Etiotropic treatment. Genetic-based therapy to the treatment of genetic
disorders. Somatic cell gene therapy (principles, methods, results)
Content module 5. Chromosomal disorders.
Specific goals:
 To learn the chromosomal disorder etiology and cytogenetics.
 To learn the chromosomal disorder pathogenesis.
 To learn the chromosomal disorder characteristics.
 To learn the modern possibilities of prenatal screening.
 To learn the indications for termination of pregnancy.
 To learn the clinical manifestation of certain syndromes: Down, Patau, Edward, "cri du chat" Turner,
Klinefelter.
Topic 8. Overview of chromosomal disorders.
Clinical manifestation of most common chromosomal disorders.
Chromosomal disorders’ etiology and cytogenetics. Classification of chromosomal disorders.
Chromosomal abnormalities and genomic mutations. Partial trisomy and monosomy. Complete and
mosaic forms. Uniparental disomy. Chromosome imprinting. Age of parents and the frequency of
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chromosomal disorders in children.
Pathogenesis of chromosomal abnormalities. The relationship between the clinical performance
and chromosomal disorders, amount of eu- and heterochromatin. Mechanisms of chromosomal disorders:
meiotic nondisjunction, disorders in oogenesis, chromosome decondensation in oocytes.
Lethal effects of chromosomal and genomic mutations (spontaneous abortion, stillbirth, early
infant death).
Defects involving various systems in the pathological process, facial dismorphia, delayed
psychomotor development, mental retardation, endocrinopathy. Progredient course.
The clinical manifestation of certain syndromes: Down, Patau, Edward, trisomy 8, trisomy 22, "cri
du chat", Wolf-Hirshhorn, Turner, Klinefelter, triple X, polysomy Y. Population frequencies.
Chromosomal abnormalities in pregnancy. Oncogenetic nature of chromosomal aberrations. Treatment
and patient rehabilitation. Prenatal screening for chromosomal disorders.
Content module 6. Mitochondrial disease
Specific goals:
 To learn the general characteristics of mitochondrial diseases.
 To learn the classification principles of mitochondrial diseases.
 To offer schemes and algorithms for suspected mitochondrial disease patients examination.
 To learn the general principles of mitochondrial disease diagnosis.
 To learn the diagnosis, therapy, symptoms and genetics presentation of MERRF syndrome.
 To learn the diagnosis, therapy, symptoms and genetics presentation of MELAS syndrome.
 To learn the main principles of mitochondrial disease treatment.
Topic 9. Overview of mitochondrial disease. Symptoms, diagnosis and treatment.
General characteristics of mitochondrial diseases. Classification of mitochondrial diseases.
Mitochondrial inheritance. Mitochondrial diseases caused by mutations in mitochondrial DNA. Diseases
caused by deletions of mitochondrial DNA. Diseases caused by point mutations in mitochondrial DNA.
Symptoms, genetics, diagnosis and therapy of MERRF, MELAS syndromes. Disorders of nuclearmitochondrial intergenomic communication, multiple deletions of mitochondrial DNA, mitochondrial
DNA deletion syndromes. Mitochondrial diseases caused by mutations in nuclear DNA. Diseases
associated with metabolic disorder of lactic and pyruvic acids. Diseases caused by defects of fatty acids
β-oxidation. Defects of Krebs cycle enzymes. Defects of carnitine cycle enzymes and associated
enzymes. General principles of mitochondrial disease diagnosis and treatment.
Content module 7. Disease of genetic predisposition.
Specific goals:
 To learn the general characteristics of multifactorial diseases.
 To explain the concepts: predisposition, genetic polymorphism of populations.
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 To illustrate the single-gene predisposition with examples.
 To identify the criteria of polygenic predisposition.
 To learn the techniques of genealogy and twin study, statistical methods for population and methods
for multifactorial disease analysis.
 To learn the genetic basis of various malignant growth forms.
Topic 10. Multifactorial disease overwiev. Concept of genetic predisposition. Preventive measures.
The role of genetic and environmental factors in common pathology of noninfectious etiology
causing. General characteristics of multifactorial diseases: high population frequency; nature of gender
and age differences; features of susceptibility gene distribution and disease prevalence in families.
The concept of susceptibility. Population genetic polymorphism. The interaction between genetic
predisposition and specific environmental conditions in disease development. Specific mechanisms for
implementing the genetic predisposition.
Predisposition caused by monogenic factors: ecogenetic disorders, pharmacogenetic reactions,
occupation diseases.
Polygenic predisposition as a result of nonallelic interactions of genes. Genetics of multifactorial
diseases: terminology, concepts and content. Techniques of genealogy and twin study, statistical methods
for population in clinical and genetic analysis of multifactorial diseases. Features of information
collection, verification and interpretation.
Dependence between the multifactorial disease degree and relationship to proband, severity of
proband’s disease status, proband’s sex, population frequency, occupation, living conditions. Table of
empirical risk. Predisposition markers. High-risk factors.
Multifactorial birth defects.
Topic 11. Fundamentals of environmental genetics, pharmacogenetics.
The role of environment in human evolution. Ecogenetic diseases. Etiology and pathogenesis.
Classification. Different triggers nosological forms (drugs, food, climate). Occupation diseases as
ecogenetic diseases (in case of small doses). Assessment of professional competence from ecogenetic
point of view. Hereditary susceptibility factors to infectious diseases. Inherited abnormal drug reactions.
Content module 8. Prevention of inherited diseases. Prenatal diagnosis, medical and genetic
counseling.
Specific goals:
 To lern the ways of inherited diseases prevention.
 To learn the prevention measures.
 To learn the indications for genetic counseling.
 To learn the indications for the prenatal diagnosis.
 To learn the methods of prenatal diagnosis.
 To analyze results of biochemical screening.
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 To learn the principles of nosologic forms selection to be subject f preclinical screening diagnosis.
 To learn deontologic aspects of screening programs.
Topic 12. Levels and ways of inherited disease prevention. Medical and genetic counseling. Prenatal
diagnosis. Screening programs.
Ethnic, geographical and social factors that contribute to differences in the prevalence of inherited
diseases. Genetic and demographic trends and the inherited diseases prevalence .
Types of inherited diseases prevention: primary, secondary and tertiary prevention. Levels of
prevention: pre-gametic, pre-zygotic, prenatal and postnatal. Ways of preventive measures: abortion;
family and birth planning; environmental control. Forms of preventive measures: genetic counseling;
prenatal diagnosis; mass screening programs; "genetic" health survey (registers); environmental control
and control of environmental factors mutagenicity.
Genetic counseling as a type of specialized medical care. Genetic counseling as a medical
conclusion. Indications for genetic counseling and objectives. Prospective and retrospective counseling.
Genetic risk degree of risk. The concept of theoretical and empirical risk. Evaluation genetic risk
principles for single-gene, chromosomal and multifactorial diseases. Methods of genetic counseling.
Genetic risk calculations; sharing information with patients; helping family to make a decision.
Deontological and ethical issues of genetic counseling. Physician collaboration within genetic counseling.
Organization of medical genetic services in Ukraine. The history of prenatal diagnosis. Prenatal diagnosis
as a prevention method. General indications for prenatal diagnosis.
Non-invasive methods of prenatal diagnosis. Ultrasound: principles, indications, timing, efficiency
of diagnosis according to fetal disease, assessment of the placenta and fetal sac. Determination of
biochemical markers’ serum level (alpha fetoprotein, human chorionic gonadotropin) in pregnant women
as a screening procedure to identify the chromosomal disorders of the fetus.
Invasive methods. Approaches of obtaining fetal tissues: placental and chorionic sampling,
amniocentesis and cordocentesis. Indications, timing, contraindications and possible complications.
Diagnosis of individual nosological forms.
Deontological and ethical issues arising in the course of prenatal diagnosis.
Screening programs. The content of the programs. Selection principles of nosologic forms to be
subject for screening preclinical diagnosis. Characteristics of the main programs for diagnosing
phenylketonuria, congenital hypothyroidism, adrenogenital syndrome. Diagnosis of heterozygous states
in groups at high genetic risk. Deontological issues of screening programs.
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THE TARGET STRUCTURE OF TEST CREDIT - MODULE 1: "MEDICAL GENETICS"
Topic
Lectures
Practice
SIS
Content module 1. Heredity and pathology. The role of heredity in human pathology.
1.The object and purpose of medical genetics. The role of
2
heredity in human pathology.
Content module 2 .Methods in medical genetics.
2
2.Genealogical method in clinical diagnosis. Molecular
2
cytogenetic techniques. Methods of biochemical analysis.
Content module 3. Propedeutics of hereditary pathology.
3.Semeiology of hereditary pathology. Features of inherited
diseases. Morphogenetic variation of development. Defects.
Content module 4. Single-gene disorders.
4.Overview of single-gene diseases. Clinical performance
and genetics of some single-gene diseases.
5.Inherited kidney diseases.
6.Skeletal system dysplasia.
2
-
-
2
2
-
-
1
-
-
1
2
-
2
-
1
1
7.Inherited metabolism disorders. Principles of inherited
diseases’ treatment, patient rehabilitation and social
adaptation.
Content module 5. Chromosomal disorder.
8.Overview
of
chromosomal
disorders.
Clinical
2
manifestation of most common chromosomal disorders.
Content module 6. Mitochondrial disease.
9.Overview of mitochondrial disease. Symptoms, diagnosis
and treatment.
Content module 7. Disease of genetic predisposition.
10.Multifactorial disease overwiev. Concept of genetic
2
2
predisposition. Preventive measures.
11.Fundamentals
of
environmental
genetics,
1
0
pharmacogenetics.
Content module 8. Prevention of inherited diseases. Prenatal diagnosis, medical and genetic
counseling.
12.Levels and ways of inherited disease prevention. Medical
and genetic counseling. Prenatal diagnosis. Screening
2
2
programs
Individual studies
-
-
Practice preparing
9
Final module control
Total hours – 45
1
10
ECTS credits – 1,5
Class load - 66,7%, SIS - 33,3%
2
2
20
15
16
№
1
2
3.
4.
5.
№
1.
2.
3
4.
5.
6.
7.
8.
9.
10.
5. THEMATIC PLAN OF LECTURES
Topic
MODULE 1: «MEDICAL GENETICS»
The object and purpose of medical genetics. The role of heredity in human
pathology.
Overview of single-gene diseases. Clinical performance and genetics of some
single-gene diseases.
Overview of chromosomal disorders. Clinical manifestation of most common
chromosomal disorders.
Multifactorial disease overwiev. Concept of genetic predisposition. Preventive
measures.
Medical and genetic counseling. Inherited disease prevention. Prenatal diagnosis.
Screening programs.
TOTAL
Hours
2
2
2
2
2
10
6. THEMATIC PLAN OF PRACTICAL STUDIES
Topic
Hours
Content module 1. Heredity and pathology. The role of heredity in human pathology.
The object and purpose of medical genetics. The role of heredity in human
2
pathology.
Content module 2 .Methods in medical genetics.
Genealogical method in clinical diagnosis. Molecular cytogenetic techniques.
2
Methods of biochemical analysis.
Content module 3. Propedeutics of hereditary pathology.
Semeiology of hereditary pathology. Features of inherited diseases.
2
Morphogenetic variation of development. Defects.
Content module 4. Single-gene disorders.
Overview of single-gene diseases. Clinical performance and genetics of some
2
single-gene diseases.
Inherited metabolism disorders. Principles of inherited diseases’ treatment,
2
patient rehabilitation and social adaptation.
Content module 5. Chromosomal disorders.
Overview of chromosomal disorders. Clinical manifestation of most common
2
chromosomal disorders.
Content module 6. Mitochondrial disease.
Overview of mitochondrial disease. Symptoms, diagnosis and treatment.
1
Content module 7. Disease of genetic predisposition.
Multifactorial disease overwiev. Concept of genetic predisposition. Preventive
2
measures.
Fundamentals of environmental genetics, pharmacogenetics.
1
Content module 8. Prevention of inherited diseases. Prenatal diagnosis, medical and genetic
counseling.
Levels and ways of inherited disease prevention. Medical and genetic counseling.
2
Prenatal diagnosis. Screening programs.
Final module control
2
TOTAL
20
17
7. SELF-DIRECTED LEARNING FORMS AND THEIR CONTROL
№
Topic
Hours
Form of control
MODULE 1: «MEDICAL GENETICS»
1.
Preparation to the practice study
- theory and practice skills
Self-instruction in themes being out of class load
9
Class routine control
Inherited kidney disease
1
Final module control
Skeletal system dysplasia
1
Final module control
Mitochondrial disease
1
Final module control
3.
Individual studies
1
Class routine control
4.
Preparation to the final module control
2
Final module control
TOTAL
15
2.
8. ASSIGNMENT OF ECTS CREDIT POINTS
Module 1. Medical genetics

After topic learning according to the common system of marks students are assigned with: "5" - 12
points, "4" - 8 points, "3" - 4 points, "2" - 0 points. Final module control is assigned with 80
points.

The maximum of points for student's current educational activities is 120.

Students must obtain at least 40 points current educational activities and meet the curriculum
requirements in order to be admitted to the final module control.

The final module control will be scored if student has at least 50 points
9. LIST OF QUESTIONS TO THE FINAL MODULE CONTROL
Module 1. Medical genetics
Content module 1. Heredity and pathology. The role of heredity in human pathology.
1.
Subject and tasks of medical genetics.
2.
The value of genetics in medicine.
3.
The frequency of congenital and hereditary diseases in different periods of ontogeny.
4.
Proportion of congenital and hereditary diseases in the structure of morbidity and mortality.
5.
Variability of hereditary traits as the basis of pathology.
6.
The role of heredity and environment in the development of pathology.
7.
Classification of inherited diseases.
Content module 2. Methods in medical genetics.
1.
Cytogenetic and molecular methods. Indications for cytogenetic studies.
18
2.
Clinical and genealogical method.
3.
Ancestry method.
4.
Types of inheritance.
5.
Mitochondrial inheritance.
6.
Methods of biochemical analysis. Indications for research.
7.
Molecular genetic methods. Indications and possibilities of the method.
Content module 3. Propedeutics of hereditary pathology.
Phenotype description metod. Syndrome-based analysis.
1.
Clinical manifestation of congenital and inherited diseases.
2.
General principles of clinical diagnosis for congenital and inherited diseases.
3.
Features of patient clinical examination and examination of their relatives.
4.
Congenital disorders.
5.
Congenital morphogenetic variants.
6.
Syndrome-based approach in the diagnosis of congenital and inherited diseases.
Content module 4. Single-gene disorders.
1.
Single-gene disorders. The concept. Etiology and classification.
2.
The general laws of single-gene disorder pathogenesis.
3.
The main features of single-gene disorder clinical performance.
4.
Clinical polymorphism of single-gene disorders and its causes.
5.
Genetic heterogeneity of single-gene disorders.
6.
Diagnosis, symptoms and genetics presentation of neurofibromatosis.
7.
Diagnosis, symptoms and genetics presentation of congenital hypothyroidism.
8.
Diagnosis, symptoms and genetics presentation of phenylketonuria.
9.
Diagnosis, symptoms and genetics presentation of cystic fibrosis.
10. Diagnosis, symptoms and genetics presentation of Marfan syndrome.
11. Diagnosis, symptoms and genetics presentation of homocystinuria.
12. Diagnosis, symptoms and genetics presentation of adrenogenital syndrome.
13. Diagnosis, symptoms and genetics presentation of Ehlers-Danlos syndrome.
14. Diagnosis, symptoms and genetics presentation of oncogenetic disorders.
15. Disorders of genetic imprinting. Etiology, pathogenesis, forms of clinical performance.
Content module 5. Chromosomal disorders.
1.
Chromosomal disorders. The concept. Etiology and classification.
2.
Effects of chromosomal disorders in ontogeny.
3.
Pathogenesis of chromosomal disorders.
4.
Overview of chromosomal disorders.
5.
Clinical and genetic characteristics of Patau syndrome.
19
6.
Clinical and genetic characteristics of Edwards syndrome.
7.
Clinical and genetic characteristics of Down syndrome.
8.
Clinical and genetic characteristics of trisomy 22.
9.
Clinical and genetic characteristics of Turner syndrome.
10. Clinical and genetic characteristics of sex chromosomes polysomies.
11. Clinical and genetic characteristics of partial aneuploidy syndromes.
12. Clinical and genetic characteristics of mikrotsytohenetychnyh syndromes.
13. High-risk factors for children born with chromosomal disorders.
Content module 6. Mitochondrial disease
1.
Overview of mitochondrial diseases.
2.
Classification of mitochondrial diseases.
3.
General principles of mitochondrial diseases’ diagnosis and treatment.
4.
Mitochondrial diseases caused by mutations in mitochondrial DNA.
5.
Diagnosis, symptoms, genetics presentation and therapy of Kearns–Sayre syndrome.
6.
Diagnosis, symptoms, genetics presentation and therapy of MELAS.
7.
Diagnosis, symptoms, genetics presentation and therapy of MERRF.
8.
Diagnosis, symptoms, genetics presentation and therapy of Leber syndrome.
9.
Diagnosis, symptoms, genetics presentation and therapy of Pearson syndrome.
10. Mitochondrial diseases caused by mutations in nuclear DNA.
Content module 7. Disease of genetic predisposition..
1.
Genetic predisposition to diseases. The concept. Overview.
2.
Genetic predisposition to monogenic and polygenic diseases.
3.
Mechanisms of diseases with genetic predisposition.
4.
The value of genetic predisposition in the general human pathology.
5.
Hereditarily determined abnormal response to the impact of external factors.
Content module 8. Prevention of inherited diseases.
Prenatal diagnosis, medical and genetic counseling.
1.
Prevention of congenital and hereditary diseases. Types of prevention.
2.
Genetic bases of congenital, genetic and multifactorial diseases’ prevention.
3.
Family planning and preconception prevention.
4.
Environmental control as part of prevention measures.
5.
Medical and genetic counseling.
6.
Indications to the medical and genetic counseling.
7.
Functions of medical denetics physician at medical and genetic counseling.
8.
The effectiveness of medical and genetic counseling.
9.
Prenatal diagnosis. Common issues. Indication. Terms.
20
10. Massive and selective ultrasound screening in pregnant women.
11. Non-invasive methods of prenatal diagnosis. Methods. Indication. Terms The method potential.
12. Invasive methods of prenatal diagnosis. Methods. Indication. Terms. The method potential.
Contraindications. Possible complications.
13. Preclinical diagnosis and preventive treatment.
14. Screening programs. Massive and selective screening programs.
15. Genetic monitoring of congenital and inherited diseases.
10. FORMS OF CONTROL
Any control and scoring are realized according to discipline program requirements and the scoring
system instruction for credit-unit system approved by MCH of Ukraine (2005).
After each topic learning students are assigned with marks of common 4-points scale to be
aftermath conversed to points depending on the number of topics in the module. The program was applied
with following conversion rules of common marks to points
Common mark
Conversion to points
Module 1
10
8
6
0
“5”
“4”
“3”
“2”
Module 1. Medical genetics.
Current control is carried out on each class. Students’ baseline knowledge (initial stage) is
assessed on the basis of tests answers.
Control during the class is conducted by assessing the performance of students’ practic skills,
analysis of theirs participation in the discussion and solution of typical situational problems.
The scoring of students’ activities is performed at the class ending; students are allowed the time
for self-preparation after class exercises. Students are offered to solve some proposed cases for theirs
knowledge scoring.
Перерахунок оцінок з багатобальної шкали здійснюється наступним чином:
Conversion of multi-point scale marks is:
10 points - "excellent"
8 points - "good"
6 points - "satisfactory"
0 - 5 points - "unsatisfactory"
The maximum of points to be got by student for current activity is 120 points. It is calculated by
adding the number of points corresponding the "excellent" mark in each class.
21
Отже, до підсумкового модульного контролю допускаються студенти, які виконали
програму модулю 1 та отримали за поточну діяльність не менше 72 балів.
The minimum of points to be got by student for learning themodulematherial is calculated by
adding the number of points corresponding the "satisfactory" mark in each class and for self-instructional
activities. Thus, the students who completed the program module 1 and received for current activity at
least 72 points are allowed to take the final module control
The final module control is held during the last practical class within the module. Diagnostic tools
of knowledge control are evaluation of practical skills (methods and techniques demonstration of
proposed practic skills), case solving, theoretical issues.
The maximum of points be got by student for module control is 80.
11. DISCIPLINE SCORING.
The marks for Medical Genetics course are exposed only to students who pass the discipline
module.
The discipline mark is set as an average of the ratings of the course modules. The maximum of
points to be got by student for module (current educational activities and final module control) is 120
points.
Students having the scientific publication or won the discipline competition within Ukraine or
other countries can get incentive points to be added to the student’s point pool.
Points conversion for course "Medical Genetics" to the ECTS score and 4-point scale (common):
The number of points in the discipline converted to ECTS scale as follows:
ECTS score
A
B
C
D
E
Statistical value
The best 10% of students
The next group of 25% of students
The next group of 30% of students
The next group of 25% of students
The last 10% of students
Percentage of students is determined within the group of students taking the course within the
relevant specialty.
The number of points in the discipline to be scored is converted to a 4-point scale as follows:
ECTS score
A
B, С
D, E
FХ, F
Statistical value
“5”
“4”
“3”
“2”
Score of FX, F ("2") is assigned to students who have not passed the module within the discipline
after completion of the study.
Score of FX ("2") is assigned to students who were scored with minimum number of points for
22
current educational activity and have not passed the final module control. They are allowed to retake
the final module control no more than 2 (two) times according the the schedule approved by the Rector.
Students who have received an F score after completion of study courses (have not completed the
training module program or have not collected for current educational activity within module the
minimum of points), must undergo module retraining. Decision is taken under the university guidance
according to the university regulations.
8. PRESCRIBED LITERATURE