opisi predmetov - Medicinska fakulteta Maribor - Univerza v Mariboru

mikrobna genomika proteomika bioinformatika: podatkovne zbirke vgenetiki in genomiki, programskaorodja (za urejanje, analizo inporavnavo nukleotidnih zaporedij, zarisanje in segregacijsko analizodružinskih dreves, za statističnogenetiko) projekt humani genom in projektHapMap genetske razlike med posamezniki populacijska genetika: velikost instruktura populacije, naravni izbor,mutacije, genetski zdrs, genski pretok,parjenje v sorodstvu; molekularnaevolucija, molekularna ura, nastanekgenomov genetski testi v diagnostiki bolezni genska terapija(genome sequence analysis, design andsegregation analysis of family tree data)statistical genetics and diseaseassociation analysisHuman genome and HapMap projectsGenetic diversity among individualsPopulation genetics: size and structureof population, natural selection,mutations, genetic drift, gene flow,inbreeding, molecular evolution,molecular clocks, evolution of genomesGenetics in diagnosisGene therapyEthics in genomics etika v genomikiTemeljni literatura in viri / Textbooks:6. STRACHAN T and READ AP: Human Molecular genetics, Gerland Publish, Inc., New York,3rd ed., 2004BROWN MS: Essentials of medical genomics, John Wiley&sons, Inc.,Hoboken, New Jersey, 20038. Nussbaum RL, McInnes,RR, Huntington FW: Thompson & Thompson Genetics inMedicine., 6th Ed, Saunders Co.,Philadelphia, 20019. Philip Benfey,: Genomics , Prentice Hall, Inc., New Jersey , 200510. Liciano J. (ed.): Pharmacogenomics, The Search for Individualized Therapies,John Wiley&Sons, 2002R.J.MCilji:Študenti bodo poglobili razumevanje načinovdedovanja, strukture in primerjave genov ingenomov, genetske raznolikosti in genetskihnapak povezanih z nastankom bolezni.Povdarek bo na prenosu novih znanj indosežkov genomike, molekularane genetike inbiomedicinske tehnologije v klinično praksona področjih preprečavenja indiagnosticiranja bolezni, načrtovanju inuporabi molekularnih in bioloških zdravil terindividualiziranemu zdravljenju na osnovigenetskih testov. Študentom bodopredstavljene možnosti, prednosti, omejitve,tveganja in etični vidiki uporabe tehnologijmolekularne genetike in genomike vmedicinske namene. Povdarek bo tudi nainterpretaciji genetskih testov in genetskemsvetovanju pri monogenskih in kompleksnihboleznih.Predvideni študijski rezultati:Objectives:Student will deeply understand how genesworks in health. and disease The focus will beon structure of genes and genomes, geneticdiversity and mutation in human genomeassociated with disease. The focus will be onhow can we transfer human genomediscoveries and use of genomic technologiesinto clinical practice for disease prevention,diagnosis, development of novel moleculartargeted biological drugs and individualizedtreatment based on patients genetic and geneexpression profiles. Possibilities, advances,limitations, ethical issues and potential risksusing genomics in biomedicine will bediscussed. Examples of interpretation ofgenetic test and genetic counseling inmonogenic and complex diseases will bediscussed.Intended learning outcomes:Znanje in razumevanje:Delovanje genov in celotnega genoma vzdravju in bolezniKnowledge and Understanding: The role of genes and whole genome inhealth and disease174