C7490 Molecular diagnostics of inherited diseases

Faculty of Science
Autumn 2023
Extent and Intensity
1/0/0. 1 credit(s) (plus extra credits for completion). Type of Completion: zk (examination).
Teacher(s)
prof. RNDr. Jiří Fajkus, CSc. (lecturer)
doc. RNDr. Lenka Fajkusová, CSc. (lecturer)
Mgr. Kamila Réblová, Ph.D. (lecturer)
Guaranteed by
prof. RNDr. Jiří Fajkus, CSc.
National Centre for Biomolecular Research – Faculty of Science
Contact Person: doc. RNDr. Lenka Fajkusová, CSc.
Supplier department: National Centre for Biomolecular Research – Faculty of Science
Timetable
Tue 8:00–8:50 B11/205
Prerequisites
Basic knowledge of molecular biology and biochemistry
Course Enrolment Limitations
The course is also offered to the students of the fields other than those the course is directly associated with.
fields of study / plans the course is directly associated with
Course objectives
At the end of the course students should be able to: 1) understand and explain molecular causes of inborn diseases; 2) understand principles of diagnostic tests for these diseases; 3) design similar tests even in other diseases with known molecular causes.
Learning outcomes
At the end of the course students should be able to: 1) understand and explain molecular causes of inborn diseases; 2) understand principles of diagnostic tests for these diseases; 3) design similar tests even in other diseases with known molecular causes.
Syllabus
  • 1) Introductory lecture 2) Molecular basis of diseases related to an expansion/deletion of repetitive sequence (Fragile X chromosome syndrome, myotonic dystrophy, facioscapulohumeral muscular dystrophy - the effect on gene expression, mRNA splicing, DNA methylation and histone modification) 3) Molecular basis of myotonic dystrophy and congenital myotonia (the role of the CLCN1 gene in both diseases) 4) Molecular basis of muscular dystrophies and myopathies (molecular genetic diagnostics, nonsense mediated mRNA decay, clinical testing of new therapeutic approaches – mRNA splicing modification, PTC therapy, and others) 5) Molecular basis of spinal muscular atrophy (why deletion of the SMN1 gene causes selective degeneration of motor neurons, molecular genetic diagnostics, SMA therapies) 6) Molecular basis of epidermolysis bullosa and other inherited skin disorders 7) Molecular basis of metabolic diseases, protein misfolding diseases, therapies, newborn screening 8) Familial hypercholesterolemia (molecular genetic diagnostics, functional analysis of mutations) 9) Molecular basis of phenylketonuria and other protein misfolding diseases 10) Congenital adrenal hyperplasia (molecular genetic analysis of the gene in the presence of its pseudogene) 11) Animal models and their use for monitoring the molecular basis of hereditary diseases and their prospective therapies. 12) Conclusion of the course
Literature
  • D. Peter Snustad Michael J. Simmons. Genetika. Brno, 2017. ISBN 9788021086135. info
  • VOHÁŇKA, Stanislav, Josef BEDNAŘÍK, D. PÁCLOVÁ, J. SEDLÁČKOVÁ and L. FAJKUSOVÁ. Vrozená myotonie na podkladě mutací v genu pro chloridový kanál (Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene). Česká a slovenská neurologie a neurochirurgie. 2011, 74/107, No 4, p. 467-470. ISSN 1210-7859. info
  • GOLDMANN, Radan, Lukáš TICHÝ, Tomáš FREIBERGER, Petra ZAPLETALOVÁ, Ondřej LETOCHA, Vladimír SOŠKA, Jiří FAJKUS and Lenka FAJKUSOVÁ. Genomic characterization of large rearrangements of the LDLR gene in Czech patiens with familial hypercholesterolemia. BMC Medical Genetics. ENGLAND: BIOMED CENTRAL LTD, 2010, vol. 11, No 115, p. 1-8. ISSN 1471-2350. info
  • JEŘÁBKOVÁ, Barbora, Lenka FAJKUSOVÁ, Hana BUČKOVÁ, Karel VESELÝ and Renata GAILLYOVÁ. Mutation Analysis of Epidermolysis Bullosa in the Czech Republic. In European Journal of Human Genetics. 2008. info
  • FAJKUSOVÁ, L., R. GAILLYOVÁ, E. ZAPLETALOVÁ, Š. PRÁŠILOVÁ, J. ŠOUKALOVÁ, I. VALÁŠKOVÁ, Z. KALINA, A. MICHENKOVÁ and E. MAKATUROVÁ. Spinal muscular atrophy in University Hospital Brno, Czech Republik - Genetic counselling, DNA analysis, Prenatal analysis. European Journal of Human Genetics. 2008, vol. 16, No 2, p. 86 - 86. ISSN 1018-4813. info
  • HEDVIČÁKOVÁ, P., Petr VONDRÁČEK, Lenka FAJKUSOVÁ and Eva ZAPLETALOVÁ. Analysis of point mutations in the SMN1 gene in Czech SMA patients. In Neuromuscular Disorders. Oxford: Pergamon-Elsevier Science Ltd, 2007, p. 793. ISSN 0960-8966. info
  • HERMANOVÁ, Markéta, Eva ZAPLETALOVÁ, Jana SEDLÁČKOVÁ, Táňa CHROBÁKOVÁ, Ondřej LETOCHA, Iva KROUPOVÁ, Josef ZÁMEČNÍK, Petr VONDRÁČEK, Radim MAZANEC, Taťána MAŘÍKOVÁ, Stanislav VOHÁŇKA and Lenka FAJKUSOVÁ. Analysis of histopathologic and molecular pathologic findings in czech LGMD2A patients. Muscle & Nerve. USA: John Wiley & Sons Inc, 2006, vol. 33, March, p. 424-432. ISSN 0148-639X. info
  • ZAPLETALOVÁ, Eva, Petr VONDRÁČEK, Barbora JEŘÁBKOVÁ, Renata GAILLYOVÁ and Lenka FAJKUSOVÁ. Correlation between SMN2 copy-number, variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid. In Neuromuscular disorders. USA: Pergamon, 2006, p. 652. ISSN 0960-8966. info
Teaching methods
lectures
Assessment methods
written test, oral exam
Language of instruction
Czech
Further Comments
Study Materials
The course is taught annually.
The course is also listed under the following terms Autumn 1999, Autumn 2000, Autumn 2001, Autumn 2013, Autumn 2014, Autumn 2015, Autumn 2016, autumn 2017, Autumn 2018, Autumn 2019, Autumn 2020, autumn 2021, Autumn 2022, Autumn 2024.
  • Enrolment Statistics (Autumn 2023, recent)
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