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Advanced Human Genetics - Outline

Download the Advanced Human Genetics course leaflet

Download the CPD Handbook

     

 

Course Suitability

  • This course is suitable for students who either have a BSc in human genetics or a genetics related subject, or who have completed the Biomed Analysis of Nucleic Acids module.

On completion of this course, students will:

  • Appreciate the overall complexity of genomes in humans and other organisms and the nature of coding and non-coding sequences
  • Understand the nature of genetic variation in humans
  • Be able to interpret genetic changes and predict their clinical outcome
 

On completion of this course, students will be able to:

  • Demonstrate an in-depth understanding of the normal process of production of proteins from DNA and how this can go wrong to cause mutation.
  • Analyse, synthesise and summarise information – in particularly be able to interpret DNA sequence in terms of the genetic code and protein production, manipulation of the DNA sequence and analysis of pedigrees
  • Demonstrate and in-depth understanding of how mutations act to cause clinical conditions.
  • Critically discuss current issues in molecular genetics

Indicative Content:

Intro to WebCT

  • Use and navigate the functions of myWebCT.
  • Explore the WebCT tools.
  • Create a web page.

Topic 1. Structure of a gene, Parts 1 and 2

  • Recognise the structure of nucleic acids and the steps from DNA to protein
  • Appreciate the differences between prokaryotes and eukaryotes
  • Describe the principles of gene regulation

Topic 2. Genes in the Genome

  • Be familiar with the history and outcomes of the human genome project
  • Use a range of databases available to gain information about the human genome and human genetic disorders
  • Appreciate the different classes of non-coding DNA in the genome

Topic 3. DNA to RNA to protein Parts 1 and 2

  • Describe features of eukaryotic gene structure
  • Understand the production and processing of RNA during protein synthesis
  • Demonstrate an understanding of the genetic code

Topic 4. Inheritance

  • Recognise the major patterms of inheritance in humans
  • Determine carrier probabilites and recurrence risks for the different pedigrees

Topic 5. Low penetrance genes

  • Appreciate the differences between linkage and association
  • Research and present the genetic basis of a common genetic disorder

Topic 6. How genes go wrong

  • Classify mutations depending on their outcome
  • Appreciate the differing effects mutations can have in the cell
  • Demonstrate an understanding of the nomenclature of mutations
  • Develop a critical appraisal of which gene changes are pathogenic

Topic 7. Genotype to phenotype

  • Appreciate how genes may interact and compensate in causing a phenotype
  • Understand how mutations in different steps of protein synthesis may alter the clinical phenotype
  • Understand exceptional mechanisms such as methylation and triplet repeat expansion

Topic 8. Cancer Genetics

  • Differentiate between the different genetic contributions to cancer
  • Recognise the different mechanisms by which genes can cause cancer
  • Understand how cells become tumorigenic
Course development supported by NHS Trusts and the Health Protection Agency
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