BB30229: Genetic basis of inherited diseases
![]() | 2019/0 |
![]() | Department of Biology & Biochemistry |
![]() | 6 [equivalent to 12 CATS credits] |
![]() | 120 |
![]() | Honours (FHEQ level 6) |
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![]() | SM 100% |
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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. |
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BB30229 is Optional on the following programmes:Department of Biology & Biochemistry
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