Bi7690 Molecular diagnostics of inherited diseases

Faculty of Science
Autumn 2011
Extent and Intensity
1/0. 1 credit(s) (plus extra credits for completion). Type of Completion: zk (examination).
Teacher(s)
doc. RNDr. Lenka Fajkusová, CSc. (lecturer)
Mgr. et Mgr. Veronika Oškerová, Ph.D. (assistant)
Guaranteed by
prof. RNDr. Jiří Fajkus, CSc.
Department of Experimental Biology – Biology Section – Faculty of Science
Contact Person: doc. RNDr. Lenka Fajkusová, CSc.
Timetable
Tue 8:00–8:50 Kontaktujte učitele
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
The aim of the course is to introduce students with 1) molecular biological problematics concerning selected inherited disorders, 2) possibilities of molecular genetic diagnostics, and 3) possibilities contemporary and prospective therapy of inherited diseases. Lectures will be targeted on diseases which diagnostics is performed in the Centre of Molecular Biology and Gene Therapy, University Hospital Brno. Lectures will be resulted from personal experiences but foremost from new studies concerning inherited diseases. At the end of the course students should be able to: 1) understand and explain molecular causes of inborn disorders; 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 principles of neuromuscular disorders: Duchenne/Becker muscular dystrophy (DMD/BMD), limb girdle muscular dystrophy (LGMD).
  • 3) Results of molecular genetic diagnostics of neuromuscular disorders (DMD, BMD, LGMD) in Czech patients; selected case reports; nonsense mediated mRNA decay.
  • 4) Molecular principles of spinal muscular atrophy (SMA): exon splicing enhancers and exon splicing silencers in SMA pathogenesis
  • 5) Facioscapulohumeral muscular dystrophy (FSHD) – neuromuscular disease associated with chromatin changes.
  • 6) Molecular principles disorders associated with expansions of repetitive sequences (Fragile X chromosome, myotonic dystrophies).
  • 7) Molecuar principles of myotonic dystrophies and congenital myotonies.
  • 8) Molecular principles of epidermolysis bullosa (EB); results of molecular genetic diagnostics in Czech patients; selected case reports.
  • 9) Other inherited skin disorders.
  • 10) Screening of inherited metabolic diseases, phenylketonuria.
  • 11) Recombination in association with familial hypercholesterolemia and congenital adrenal hyperplasia.
  • 12) Contemporary and prospective therapy of inherited disoerders.
Literature
  • přednášky
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 2010 - only for the accreditation, Autumn 2010, Autumn 2011 - acreditation, Autumn 2012.
  • Enrolment Statistics (Autumn 2011, recent)
  • Permalink: https://is.muni.cz/course/sci/autumn2011/Bi7690