- Student Records
Programme & Unit Catalogues

Department of Biology & Biochemistry, Unit Catalogue 2011/12


BB40124: Human developmental disorders

Click here for further information Credits: 6
Click here for further information Level: Masters UG & PG (FHEQ level 7)
Click here for further information Period: Semester 1
Click here for further information Assessment: ES 40%, OT 10%, SM 50%
Click here for further information Supplementary Assessment: Like-for-like reassessment (where allowed by programme regulations)
Click here for further information Requisites: In taking this unit you cannot take BB40085 or take BB40102 or take BB40118 or take BB40170 and before taking this unit you must take BB20149
Click here for further information Description: Aims:
To explore the cellular and molecular basis of various human developmental disorders with a genetic or epigenetic basis. To investigate how different experimental approaches can be used to provide understanding of these disorders.

Learning Outcomes:
After taking this course the student should be able to:
* explain how and why various techniques have been applied to the study of gene function in developmental disorders;
* evaluate the appropriate literature to determine the key facts that lead to our current understanding of the basis of a genetic disorder;
* evaluate the value and limitations of various experimental approaches in forming conclusions about a given disorder;
* present oral and written reports that form concise and up-to-date summaries of our knowledge of a genetic disorder.

Skills:
Learning and studying T/F/A, Written communication T/F/A, Oral communication T/F/A, Information handling & retrieval T/F/A, Working independently T/F/A.

Content:
Developmental diseases may include the following syndromes: albinism, Angelman, Beckwith-Wiedemann, Denys Drash, Frasier, Hirshprung's, piebaldism, Prader-Willi, Rett, Silver-Russell, Waardenburg. Experimental approaches to encompass human molecular genetic studies (including screening for mutations, analysis of pedigrees and distinction of polymorphisms from causal mutations), techniques for evaluating mutant protein function (biochemically and in cell culture), and use of animal models.
Click here for further informationProgramme availability:

BB40124 is Optional on the following programmes:

Department of Biology & Biochemistry
  • USBB-AFB03 : BSc (hons) Biology (Full-time) - Year 3
  • USBB-AKB07 : BSc (hons) Biology with Professional Placement (Full-time with Thick Sandwich Placement) - Year 4
  • USBB-AFB05 : BSc (hons) Molecular and Cellular Biology (Full-time) - Year 3
  • USBB-AKB08 : BSc (hons) Molecular and Cellular Biology with Professional Placement (Full-time with Thick Sandwich Placement) - Year 4
  • USBB-AKM05 : MBiol (hons) Molecular and Cellular Biology (Full-time with Thick Sandwich Placement) - Year 4
  • RSBB-AFM07 : Integrated PhD Postgenomic Biosciences (Biosciences Route) (Full-time) - Year 1
  • RSBB-AFM14 : Integrated PhD Postgenomic Biosciences (Developmental Biology Route) (Full-time) - Year 1
  • RSBB-AFM08 : Integrated PhD Postgenomic Biosciences (Regenerative Medicine Route) (Full-time) - Year 1
  • TSBB-AFM03 : MRes Biosciences (Full-time) - Year 1
  • TSBB-AFM14 : MRes Developmental Biology (Full-time) - Year 1
  • TXXX-AFM10 : MRes Regenerative Medicine (Full-time) - Year 1
  • TSBB-AFM06 : MSc Biosciences (Full-time) - Year 1
  • TSBB-AFM07 : MSc Developmental Biology (Full-time) - Year 1
  • TSBB-AFM05 : MSc Industrial Biotechnology and Enterprise (Full-time) - Year 2
  • TSBB-AFM09 : MSc Medical Biosciences (Full-time) - Year 1

NB. Programmes and units are subject to change at any time, in accordance with normal University procedures.