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Module - LIFE4064 - Template - Molecular Basis of Genetic Disorders
ProgrammeSoLS - Life Sciences Modules Database (Level 4)
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Accrediting Bodies
Module CodeLIFE4064
Credits10
Total Credits:
 
10.00
 
Level:
 
4
 
Target Students:
 
Compulsory for all students taking the MSc in Molecular Genetics and Diagnostics. Also available to other students enrolled on MSc courses within the School of Life Sciences.
 
Summary Of Content:

This module covers the molecular basis of human diseases with a genetic component,focusing on those with a Mendelian pattern of inheritance. The lectures will cover clinical features of selected diseases and their genetic basis. The seminars will provide experience in interpreting genetic tests in inherited disorders, and opportunities to discuss the concepts underlying the identification of predisposing genes in human disorders.

 
 
 
TypeLink
Moodle
 
 

To allow students to gain a range of skills necessary to understand the genetic basis of disease, and for the interpretation of test results.

 
Education Aims:
 
Offering School:
 
Life Sciences
 
Convenor:
 
 
 
Name
Dr Helen Knight
 
 
 
 
Semester
Spring UK
 
 
 
Requisites:
 
N/A
 
Additional Requirements:
 
 
 
Condition
Only available for students studying School of Life Sciences MSc plans
 
 
Method and Frequency of Class:
 
 
 
ActivityNumber of WeeksNumber of sessionsDuration of a session
Lecture
12 weeks
0.00 week
1 hour
Workshop
12 weeks
0.00 week
1 hour
 
 
Each lecture will be 1 hour, with approximately 2 hours of directed reading and associated work. The additional 5 workshops will provide opportunities for the students to interpret genetic test results, to discuss underlying concepts and present their assignment poster.  Preparatory material may be provided in the form of recorded lectures and documents which students are required to work through outside of the timetables face-to-face sessions.  There will be a 1 hour session to discuss assessment details.
 
Method of Assessment:
 
Assessment TypeWeightRequirements
Poster and summary report of the poster
100.00
Each student will asked to produce a conference standard poster describing a disease and mode/model of inheritance. In addition to the poster, they will expected to produce a short abstract explaining the details presented in the poster and which will include references of primary literature. 
Poster and summary report of the poster
100.00
Each student will asked to produce a conference standard poster describing a disease and mode/model of inheritance. In addition to the poster, they will expected to produce a short abstract explaining the details presented in the poster and which will include references of primary literature. 
 
 
Each lecture will be 1 hour, with approximately 2 hours of directed reading and associated work. The additional 5 workshops will provide opportunities for the students to interpret genetic test results, to discuss underlying concepts and present their assignment poster.  Preparatory material may be provided in the form of recorded lectures and documents which students are required to work through outside of the timetables face-to-face sessions.  There will be a 1 hour session to discuss assessment details.
 
Assessment Period:
 
Assessed by end of Spring Semester
 
     
 
Learning Outcome:
 

Knowledge and Understanding 

By the end of this course/module, students will be able to: 

  • Describe the principles of Mendelian inheritance and models of genetic disease
  • Describe the genetic basis and clinical features of selected Mendelian and complex disorders
  • Identify clinical situations where molecular testing is useful in Mendelian disorders, and interpret the results of these tests. 
  • Design appropriate molecular tests for a specific disorder
  • Describe the concepts of genetic recombination, linkage and linkage disequilibrium

Transferable/Key Skills 

By the end of this module, students will be able to: 

  • Work independently, demonstrating self-organisation and time management.
  • Interpret clinical genetic data.
  • Evaluate scientific publications.
  • Design and produce conference-standard posters.
  • Write a concise abstract.
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