Bi7250c Medical genetics and genetical consulting - practice

Faculty of Science
Spring 2022
Extent and Intensity
0/2/0. 2 credit(s) (fasci plus compl plus > 4). Type of Completion: z (credit).
Teacher(s)
RNDr. Vladimíra Vallová, Ph.D. (seminar tutor)
RNDr. Iveta Valášková, Ph.D. (seminar tutor)
Guaranteed by
doc. RNDr. Petr Kuglík, CSc.
Department of Experimental Biology – Biology Section – Faculty of Science
Contact Person: RNDr. Vladimíra Vallová, Ph.D.
Supplier department: Department of Experimental Biology – Biology Section – Faculty of Science
Timetable
Mon 15:00–18:50 Kontaktujte učitele
Prerequisites (in Czech)
Bi0422 Morphological and Functional Pathology && Bi0311 Clinical Haematology && (NOW( Bi7250 Medical genetics ) || Bi7250 Medical genetics )
Course Enrolment Limitations
The course is only offered to the students of the study fields the course is directly associated with.

The capacity limit for the course is 20 student(s).
Current registration and enrolment status: enrolled: 0/20, only registered: 0/20
fields of study / plans the course is directly associated with
Course objectives
The main focus of the course is practical training in modern genetic, genomic and molecular biology techniques used in clinical laboratories for genetic testing and molecular diagnostics. The course will be held in accredited department of Faculty Hospital Brno, mainly in Laboratories of Medical Genetics (OLG FN Brno) under direct supervision of clinical professionals. During courses, students will be trained in standard genetic techniques used in the laboratory, including direct genetic evaluations and mutation analyses known pathogenic genetic variants associated with human diseases.
Learning outcomes
After the course, students should be able to: - acquire basic skills in laboratory praxis and further develop practical skills in genetic testing techniques - - obtain basic overview over legal and ethical issues in clinical medicine - - master DNA and RNA extraction techniques and perform mutation analyses from patient’s biologic samples - - utilize specialized laboratory genetic and molecular biology techniques and be fluent in modern methods of analysis of human genome (PCR, MLPA, Sanger sequencing…) - - perform DNA diagnostics and mutation analyses of most common inherited diseases such as CF, DMD, SMA, detection of Leiden mutation etc. - - analyze, evaluate and interpret results of laboratory tests associated with patient’s diagnosis
Syllabus
  • • Informed consent and its implications • Genetic counseling in clinical praxis • Theoretical background to genetic techniques routinely used in laboratory. ISO 15189:2013, accredited genetic tests used in OLG FN Brno • DNA extraction techniques from peripheral blood • PCR technique and gel electrophoresis – utilization for detection delF508 in CFTR gene • Allele specific PCR – panel of 50 mutations associated with cystic fibrosis disease • Restriction analysis - detection of Factor V Leiden mutation • Multiplex ligation-dependent probe amplification (MLPA) – detection of carriers of Spinal muscular atrophy (SMA) • Real-time PCR – detection of Leiden mutation • Detection of sequencing variants with DNA probes and intercalating fluorescent dyes. • Detection of single nucleotide mutations with sequencing techniques Reverse hybridization – evaluation of lactose intolerance
Teaching methods
Practical work
Assessment methods
Credit course - full attendance in all lessons, written protocols.
Language of instruction
Czech
Further Comments
Study Materials
The course is taught annually.
The course is also listed under the following terms Spring 2020, Spring 2021, Spring 2023, Spring 2024, Spring 2025.
  • Enrolment Statistics (Spring 2022, recent)
  • Permalink: https://is.muni.cz/course/sci/spring2022/Bi7250c