CLINICAL GENETICS

During classes students learn the basics of the mechanisms of human genetic diseases (including cancer) and congenital malformations, most commonly present in our population. The seminars discussing diseases and genetic syndromes, diagnostic methods (cytogenetic and molecular) used in clinical genetics.

Seminars will prepare future clinicians to the ability of diagnosis, treatment and holding medical care in open and closed healthcare system, take part in health promotion, healthcare organization and management.

The topics of the course include genetic counseling, pedigree analysis, genetic risk estimation, organization and functioning of genetic counseling center.

Clinical aspects of gene therapy of monogenic diseases and cancer, ethical and legal issues of genetic testing, gene therapy and genetic counseling are also included.

Joining the course, student is obliged to know the basis of biology and genetics as well as the topics discussed at the course held during 3th year.

Teachers:

  • prof. dr hab. Olga Haus – Head of Department
  • dr Magdalena Pasińska – associate

CONTACT:

  • mgr Natalia Chrzanowska
  • mgr Aneta Bąk
  • mgr Katarzyna Osmańska

SYLABUS

I. Name of the unit offering the course: Department of Clinical Genetics

II. Head of the unit/ course coordinator: prof.dr hab. Olga Haus

III. 6th year, number of hours: 20

IV. Form classes: seminars: 20

VI. Form of crediting: exam

VII. Number of ECTS points: 1

VIII. Aim of classes:

During classes studentslearn the basics ofthe mechanismsof human geneticdiseases (including cancer) andcongenital malformations, most commonly presentin our population.The seminars discussingdiseasesand genetic syndromes, diagnostic methods (cytogenetic and molecular) used in clinical genetics.

Seminars will prepare future clinicians to the ability of diagnosis, treatment and holding medical care in open and closed healthcare system, take part in health promotion, healthcare organization and management.

The topics of the course include genetic counseling, pedigree analysis, genetic risk estimation, organization and functioning of genetic counseling center.

Clinical aspects of gene therapy of monogenic diseases and cancer, ethical and legal issues of genetic testing, gene therapy and genetic counseling are also included.

Joining the course, student is obliged to know the basis of biology and genetics as well as the topics discussed at the course held during 3th year.

IX. Topics of seminars:

  1. Indications for constitutional karyotype analysis,
  2. Indications for molecular analysis,
  3. Neonates screening,
  4. Indications for genetic analysis in gynecology and obstetrics,
  5. Disorders of sexual development.
  6. Information about child’s disease.
  7. ‘Nonmendelian’ occurrence of monogenic diseases. ‘Imprinting genealogy’, ‘Mitochondrial genealogy’.
  8. Neurodegenerative disorders:

-Alzheimer disease

-Huntington disease

  1. Genetic counseling in late onset diseases
  2. Hereditary cancers – genetic background, clinical and genealogy criteria, molecular analysis, genetic counseling.
  3. Chromosome breakage syndromes.
  4. Rett syndrome.
  5. Microdeletion syndromes.
  6. 4p-, 5q- syndromes, aberrations of chromosomes 13 and 18, new techniques of detection of chromosomal disorders.
  7. Ethical aspects of genetic tests.

X. Self study topics:-

XI. Booklist:

  1. Bridge PJ. The Calculation of Genetic Risk. Worked examples in DNA diagnostics. 1997, The Johns Hopkins Press.
  2. Jorde L.B., Carey J.C., Bamshad M.J.. Medical Genetics. 4th Edition. 2010. MOSOBY, Elsevier.
  3. Lupski JR., Stankiewicz P. Genomic Disorders. 2006, Humana Press Inc.
  4. Strachan T., Read A. Human molecular Genetics. 4th Edition. 2011. Garland Science.
  5. Tobias E.S., Connor M., Ferguson – Smith M. Medical Genetics. 2011. 6th Edition. Wiley-Blackwell.
  6. Sudbery P., Sudbery I. Human molecular genetics.2009, Pearson Education Limited.
  7. Verma R.S., Babu A. Human Chromosomes. Principles and Techniques. 2005. 3th Edition

XII. Learning outcomes:

After completing the course students:

-use the correct genetic nomenclature,

-recognize and distinguish the most common genetic syndromes,

-understand the basis of inheritance of diseases of genetic background,

-understand the basis of inheritance of congenital malformations,

-know the principles of genetic counseling,

-know the principles of functioning of genetic counseling center,

-are familiar with criteria of using different methods and techniques of genetic diagnostics,

-are familiar with ethical and legal aspects required for genetic testing and genetic counseling,

XIII. Evaluation criteria:

-active presence at the seminars,

-written exam including the 3rd year topics, seminars topics as well as material included in literature.

XIV. Teaching methods:

Lectures with vast range of examples of genetic diagnostic methods and human genetic diseases.

RULES AND REGULATIONS

1. General rules:

  • seminars are obligatory,
  • students presence at seminars is registered,
  • the scope of knowledge required for each seminar is given on Department’s information board,
  • students are expected to read the appropriate passages from textbooks

2. Form and conditions of course completion:

  • written test covering topics of seminars,
  • the test consists of 50 questions. In terms of passing the exam student has to obtain the score of at least 60%.

3. Criteria of the course completion:

  • participation in all seminars,
  • mastering the knowledge required for seminars,
  • mastering the knowledge included in indicated literature (list of recommended books is placed on the Department’s information board).

4. Criteria of justifying the absence:

  • every absence during seminars must be excused at the first seminar after an absence,
  • there is a possibility to comprehend the material discussed during missed seminar within the last week of academic term, but before the test.

5. The final exam:

  • the final test can take place only after the last seminar,
  • in case of failed test, second attempt can take place within the time dedicated for exam session, and its date must be accepted by the lecturer,
  • failure of the second attempt results in board exam,
  • unjustified absence during any test is regarded as a failed test.

6. Safety rules and regulations:

  • all students are obliged to know the safety rules and regulations,
  • the safety rules and regulations are enclosed in separate sheet,
  • all students are acquainted with the rules during their first seminar,
  • all students must sign a statement, that they are aware of all safety rules, regulations and procedures in case of fire and other dangers.

7. Miscellaneous:

  • each student is given one copy of these rules and regulations.
  • all students are asked to sign the consent of obeying the rules.

I, hereby confirm that I have been acquainted with Department’s of Clinical Genetics rules and regulation and have been informed that these rules are unquestionable.