Human Molecular Genetics
   
Referentie CNSERV01000004
Wordt gegeven in Master of Molecular Biotechnology, Option: Molecular Medical Biotechnology
Theorie (A) 15.0
Toepassingen (B) 0.0
Stages en scriptie (C) 0.0
Studietijd (D) 90.0
Studiepunten (E) 3
Niveau  
Creditcontract? Toelating mogelijk mits gunstige beoordeling competenties
Examencontract? Dit opleidingsonderdeel kan niet gevolgd worden via een examencontract
Creditcontract verplicht bij Examencontract? Creditcontract verplicht tenzij uitzondering toegestaan
Tweede examenkans mogelijk? Ja
Onderwijstaal Engels
Verantwoordelijk lesgever Franki Speleman
Vakgroep GE02
Medelesgevers  
Sleutelwoorden

Chromosomes, inheritance, mutation, disease genes, common disorders, mitochondrial diseases, familial cancer

Situering

Overview of the current state of the art of "Human Molecular Genetics" with particular reference to genetic diseases. Focus will be on the impact of the completion of the human genome sequence on areas of chromosome research, Mendelian genetics, mitochondrial inheritance and multifactorial inheritance.

Inhoud

Modes of inheritance: a molecular point of view. One gene and several diseases versus one disease and many genes. Identification and study of disease genes. Genetics of common disorders. Mitochondrial diseases. Mutations and DNA repair. Genomic imprinting and genetic diseases. Molecular pathology of genetic disorders (loss and gain of function, mutations, epigenetic modifications, basis of single gene disorders, expanding repeats, modifier genes. Transcription factors in genetic disorders. Molecular basis of chromosomal disorders. Understanding genetic disorders using animal models.

Begincompetenties

Previous education in the life sciences equivalent with the level of Master of Science in Biochemistry and Biotechnology, specifically.

Eindcompetenties

Knowledge of general principles and new insights in the domain of human molecular genetics.

Leermateriaal

Book Human Molecular Genetics, Tom Strachan and Andrew P. Read, 2nd Ed. 1999 , BIOS Scientific Publishers Ltd, Notes, schemes and figures, PDF extracts from the recent literature
approx 60 euro

Referenties

Book Human Molecular Genetics, Tom Strachan and Andrew P. Read, 2nd Ed. 1999 , BIOS Scientific Publishers LtdSyllabus

Studiebegeleiding

Prof. Erik Remaut, chairman of the Educational Comittee Molecular Biotechnology, is the contact person for general study coaching.

Didactische werkvorm

Lectures

Evaluatievorm

Permanent interaction with the students, and final exams

Ondervragingsvorm

Written and oral examination

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