SL30065: Genetic basis of inherited diseases
[Page last updated: 03 June 2024]
Academic Year: | 2024/25 |
Owning Department/School: | Department of Life Sciences |
Credits: | 6 [equivalent to 12 CATS credits] |
Notional Study Hours: | 120 |
Level: | Honours (FHEQ level 6) |
Period: |
|
Assessment Summary: | SM 100% |
Assessment Detail: |
|
Supplementary Assessment: |
|
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 OR take SL40114 |
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 |
Aims: | To provide students with an understanding of the genetic basis of inherited diseases and the medical aspects of the field. |
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. |
Course availability: |
SL30065 is Optional on the following courses:Department of Life Sciences
|
Notes:
|