VLKG7X1p Clinical Genetics - lecture

Faculty of Medicine
Autumn 2011
Extent and Intensity
1/0/0. 1 credit(s). Type of Completion: k (colloquium).
Teacher(s)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
MUDr. Šárka Prášilová (seminar tutor)
MUDr. Jana Šoukalová (seminar tutor)
RNDr. Iveta Valášková, Ph.D. (seminar tutor)
RNDr. Jitka Kadlecová, Ph.D. (seminar tutor)
Mgr. Marta Navaříková (seminar tutor)
Mgr. Hana Filková (seminar tutor)
RNDr. Iva Slámová (seminar tutor)
Mgr. Martina Vráblíková (assistant)
Ing. Lucia Ráheľová (assistant)
Guaranteed by
MUDr. Renata Gaillyová, Ph.D.
Department of Biology – Theoretical Departments – Faculty of Medicine
Timetable
Mon 26. 9. to Fri 25. 11. Mon 17:00–17:50 B11/234, Mon 28. 11. to Fri 6. 1. Mon 13:30–14:20 B11/234
Prerequisites (in Czech)
VLLM0522p Medical Microbiology II - lect && VLIM051p immunology-lecture && ( VSBC041p Biochemistry II -l || VSBC0422p Biochemistry II -l ) && VSIP0622c Clin.exam.in int.med.-pract.
Course Enrolment Limitations
The course is only offered to the students of the study fields the course is directly associated with.
fields of study / plans the course is directly associated with
Course objectives
The course provides an overview of the current knowledge of clinical genetics and its interdisciplinary character. Recent and modern concepts of genetic disorders, prevention of genetic diseases and congenital defects and relevant modern diagnostic methods are presented to students. As an extension of these topics, ethical, juridical and psychosocial issues are discussed. The subject matter presented in this course will help to better understand other medical subjects including internal medicine, neurology, surgery etc.
Syllabus
  • Principles of clinical genetics - standard karyotype and its abnormalities - indication criteria for prenatal and postnatal karyotype examination - prenatal cytogenetic methods - prenatal screening examinations – chromosomal aberrations – chromosome instability – principles of DNA diagnostics - prenatal diagnostics using methods of molecular genetics – gene therapy and mapping of the human genome – principles of oncocytogenetics – genetic counseling - case reports.
Literature
  • Základem studia je látka přednášená na přednáškách a probíraná na seminářích a stážích z klinické genetiky a materiály v IS.
  • D.J.Pritchard, B.R.Korf: Základy lékařské genetiky, Galén 2007
  • Nussbaum, Mc Illnes, :Thompson & Thompson: Klinická genetika, 2004
  • SRŠEŇ, Štefan and Klára SRŠŇOVÁ. Základy klinickej genetiky. 2. preprac. a rozš. vyd. Martin: Vydavateľstvo Osveta, 1995, 259 s. ISBN 8021704772. info
  • KUČEROVÁ, Maria. Vrozené a získané poruchy lidských chromosomů. 2., dopl. vyd. Praha: Avicenum, 1988, 177 s. URL info
  • HYÁNEK, Josef. Klinické a biochemické aspekty vrozených metabolických poruch. 1. vyd. Praha: Avicenum, 1980, 280 s. info
  • MICHALOVÁ, Kyra. Úvod do lidské cytogenetiky. Vyd. 1. V Brně: Institut pro další vzdělávání pracovníků ve zdravotnictví v Brně, 1999, 172 s. ISBN 8070132817. info
  • Vojtíšková M.: Klinická molekulární genetika, IDVPZ Brno, 1999
  • ŠMARDA, Jan. Člověk v proudu dědičnosti (Geny v lidském zdraví a nemoci) (Man in the stream of heredity). Praha: Grada-Avicenum, 1999, 136 pp. ISBN 80-7169-768-0. info
  • Pokroky v lékařské genetice. Edited by Jan Kapras. 1. vyd. Praha: Avicenum, 1992, 141 s. ISBN 80-85047-10-1. info
  • ŽIŽKA, Jan. Diagnostika syndromů a malformací. 1. vyd. Praha: Galén, 1994, 414 s. ISBN 80-85824-04-3. info
  • Practical genetic counselling. Edited by Peter S. Harper. 4th ed. Oxford: Butterworth-Heinemann, 1993, 348 s. ISBN 0-7506-0928-1. info
  • Atlas klinických syndromů :pro kliniku a praxi. Edited by H.-R Wiedemann - J. Kunze - F.-R Grosse, Translated by Miloslav Navrá. 1. vyd. Martin: Osveta, 1996, xxvii, 684. ISBN 80-217-0517-5. info
  • George H. Sack, Jr. : Medical Genetics
Teaching methods
one-hour lecture per week
Assessment methods
oral colloquium, for giving of course-unit credit is necessary full attendance in the lessons
Language of instruction
Czech
Further Comments
Study Materials
The course can also be completed outside the examination period.
Listed among pre-requisites of other courses
The course is also listed under the following terms Spring 2000, Autumn 2000, Spring 2001, Autumn 2001, Spring 2002, Autumn 2002, Spring 2003, Autumn 2003, Spring 2004, Autumn 2004, Spring 2005, Autumn 2005, Spring 2006, Autumn 2006, Spring 2007, Autumn 2007, Spring 2008, Autumn 2008, Spring 2009, Autumn 2009, Spring 2010, Autumn 2010, Spring 2011, Spring 2012, Autumn 2012, Spring 2013, Autumn 2013, Spring 2014, Autumn 2014, Spring 2015, Autumn 2015, Spring 2016, Autumn 2016, Spring 2017, Autumn 2017, Spring 2018, autumn 2018, spring 2019, autumn 2019, spring 2020, autumn 2020, spring 2021, autumn 2021, spring 2022, autumn 2022, spring 2023, autumn 2023, spring 2024, autumn 2024, spring 2025.
  • Enrolment Statistics (Autumn 2011, recent)
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