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BB30229: Genetic basis of inherited diseases

Follow this link for further information on academic years Academic Year: 2019/0
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: Honours (FHEQ level 6)
Further information on teaching periods Period:
Semester 1
Further information on unit assessment Assessment Summary: SM 100%
Further information on unit assessment Assessment Detail:
  • Seminar (SM 100%)
Further information on supplementary assessment Supplementary Assessment:
Like-for-like reassessment (where allowed by programme regulations)
Further information on requisites Requisites: Before taking this module you are advised to ( take BB10214 OR take BB10007 ) AND take BB10006
In taking this module you cannot take BB40102
Further information on descriptions Description: Aims:
To provide students with an understanding of the genetic basis of inherited diseases and the medical aspects of the field.

Learning Outcomes:
After taking this course the student should be able to:
* Understand, describe and explain common inherited genetic diseases
* Understand, describe and explain the principles of diagnostic tests and critically evaluate their efficacy
* Understand, describe and explain the principles behind the treatments and management of inherited genetic diseases

Knowledge and understanding T/F/A, Intellectual skills F/A, Written communication F/A, Oral communication F/A, Numeracy F/A, Data acquisition, handling, and analysis F/A, Information technology F/A, Working independently F/A, Group working F/A.

The origins and characteristics of gene mutation (substitutions, insertions and deletions, inversions and translocations); Mendelian inheritance of single gene disorders; Autosomal recessive and dominant mutations; Sex chromosome mutations; Polygenic inheritance; Chromosomal rearrangements; Synteny; Aneuploidy and gonadal mosaicism; Repeat expansion disorders; Preimplantation genetic diagnosis in IVF. Genome editing in potential treatment of genetic disease.
Further information on programme availabilityProgramme availability:

BB30229 is Optional on the following programmes:

Department of Biology & Biochemistry
  • USBB-AFB02 : BSc(Hons) Biochemistry (Year 3)
  • USBB-AKB06 : BSc(Hons) Biochemistry with Professional Placement (Year 4)
  • USBB-AFB03 : BSc(Hons) Biology (Year 3)
  • USBB-AKB07 : BSc(Hons) Biology with Professional Placement (Year 4)
  • UXXX-AFB11 : BSc(Hons) Biomedical Sciences (Year 3)
  • UXXX-AKB11 : BSc(Hons) Biomedical Sciences with Professional Placement (Year 4)
  • USBB-AFB05 : BSc(Hons) Molecular and Cellular Biology (Year 3)
  • USBB-AKB08 : BSc(Hons) Molecular and Cellular Biology with Professional Placement (Year 4)