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BB30229: Genetic basis of inherited diseases

[Page last updated: 04 August 2021]

Academic Year: 2021/2
Owning Department/School: Department of Biology & Biochemistry
Credits: 6 [equivalent to 12 CATS credits]
Notional Study Hours: 120
Level: Honours (FHEQ level 6)
Semester 1
Assessment Summary: SM 100%
Assessment Detail:
  • Seminar (SM 100%)
Supplementary Assessment:
Like-for-like reassessment (where allowed by programme regulations)
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
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

Skills: 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.

Content: 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.

Programme 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-AKB08 : BSc(Hons) Molecular and Cellular Biology with Professional Placement (Year 4)


  • This unit catalogue is applicable for the 2021/22 academic year only. Students continuing their studies into 2022/23 and beyond should not assume that this unit will be available in future years in the format displayed here for 2021/22.
  • Programmes and units are subject to change in accordance with normal University procedures.
  • Availability of units will be subject to constraints such as staff availability, minimum and maximum group sizes, and timetabling factors as well as a student's ability to meet any pre-requisite rules.
  • Find out more about these and other important University terms and conditions here.