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Information for module BIOLM013

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Module code:BIOLM013(Add to my personalised list)
Title:Advanced Human Genetics 1: Basic Principles (Masters Level)
Credit value:.5
Division:Division of Biosciences
Module organiser:Prof Andres Ruiz-Linares
Organiser's location:Biological Sciences
Organiser's email:a.ruizlin@ucl.ac.uk
Available for students in Year(s):4,
Module prerequisites:BIOL2006 Introduction to Human Genetics 
Module outline:This course covers the methodology used for the cloning of genes responsible for Mendelian diseases, how genetic analysis has provided insights into the biology of human disease, together with prospects for the management of Mendelian disorders in human populations. Lectures in the course are organized around three broad topics: Methods: Linkage analysis, genetic and physical maps, population studies, finding candidate genes experimentally and by database searching, identifying pathogenic mutations Relating genotype to phenotype: Selected human diseases are exemplified as well as animal models Impact on medicine: genetic counselling; DNA diagnosis and screening, and gene therapy. Tutorial/practical sessions provide hands on exposure to the methodology used in finding genes for Mendelian diseases, including an integrative practical making extensive use of web resources for genetic mapping.  
Module aims:To provide students with - an understanding of the methods used to identify gene mutations causing Mendelian diseases - an illustration of how the genetic analysis Mendelian disorders has contributed to the understanding of the biology of human disease - an appreciation of the impact of research on the diagnosis and management of Mendelian diseases.  
Module objectives:Knowledge: LOD-scores analysis, genetic maps, linkage marker panels, molecular pathogenesis of the disorders chosen as examples, knock-out/knock-in mice, transgenic vectors, genetic risk, population screening. Skills: assessing the informativity of human pedigrees and individuals, testing for linkage, haplotype analysis, scoring of genotypic data, use of web tools for genome analysis, use of computer packages for linkage analysis.  
Key skills provided by module:Genetic analysis of Mendelian phenotypes; use of web resources for genome analysis.  
Module timetable:https://cmis.adcom.ucl.ac.uk:4443/timetabling/moduleTimet.do?firstReq=Y&moduleId=BIOLM013 
Module assessment:Unseen two-hour written examination 65.00%.
Coursework 35.00%.
 
Notes:To register for this module for the 2012/13 academic year please ensure you meet the prerequisites listed above (where applicable) and, if you do, select it using Portico and await Teaching and Parent Department approval. 
Taking this module as an option?: 
Link to virtual learning environment(registered students only) 
Last updated:2012-07-17 15:43:17 by