C7490 Molecular diagnostics of inherited diseases

Faculty of Science
Autumn 2020
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)
Mgr. Lukáš Tichý, 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 prace doma
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
there are 10 fields of study the course is directly associated with, display
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
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 2021, Autumn 2022, Autumn 2023, Autumn 2024.
  • Enrolment Statistics (Autumn 2020, recent)
  • Permalink: https://is.muni.cz/course/sci/autumn2020/C7490