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BB40124: Human developmental disorders

Follow this link for further information on academic years Academic Year: 2018/9
Further information on owning departmentsOwning Department/School: Department of Biology & Biochemistry
Further information on credits Credits: 6      [equivalent to 12 CATS credits]
Further information on notional study hours Notional Study Hours: 120
Further information on unit levels Level: Masters UG & PG (FHEQ level 7)
Further information on teaching periods Period:
Semester 1
Further information on unit assessment Assessment Summary: ES 40%, OT 10%, SM 50%
Further information on unit assessment Assessment Detail:
  • Seminar presentation (SM 50%)
  • Participation (OT 10%)
  • Essay (ES 40%)
Further information on supplementary assessment Supplementary Assessment:
Re-assessment Essay (where allowed by programme regulations)
Further information on requisites Requisites: In taking this module you cannot take BB40085 OR take BB40102 OR take BB40118 OR take BB30229
Before taking this module you are advised to take BB20149
Further information on descriptions 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, especially the use of animal models, 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.

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.

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.
Further information on programme availabilityProgramme availability:

BB40124 is Optional on the following programmes:

Department of Biology & Biochemistry