Human Molecular Genetics and Epigenetics
| Code | School | Level | Credits | Semesters |
| LIFE4064 | Life Sciences | 4 | 10 | Spring UK |
- Code
- LIFE4064
- School
- Life Sciences
- Level
- 4
- Credits
- 10
- Semesters
- Spring UK
Summary
This course/module covers molecular human molecular genetics and epigenetics and relationships with disease. The primarily focus will be on Mendelian pattern of inheritance, genetic models of complex disease and population genetics, epigenetic processes and the relationship between (epi)genomics and expression of disease. The lectures will cover clinical features of selected diseases and their genetic and molecular basis. The workshops will provide experience in using genomic tools and opportunities to discuss the concepts underlying disease and modes of inheritance, and, the identification of predisposing genes in human disorders.
The content will be blended with online asynchronous, synchronous and face to face teaching. The following topics will be addressed:
Modes of inheritance
Pedigree analysis
Identifying disease genes
Mutations and functional genomics
Genotype-phenotype relationships
Population genetics
Expression QTLs (eQTLS)
Epigenetic processes and diseases
Assessment details- poster
Poster presentation
Target Students
Compulsory for all students taking the MSc in Molecular Genetics and Diagnostics (U7PMOLGD). Also available to other students enrolled on MSc courses, but not MSci, within the School of Life Sciences. This module is not open to undergraduate students.MSc students not on the MSc in Molecular Genetics and Diagnostics (U7PMOLGD) course must request/contact the module convenor to ask to join the module.
Classes
This module may be delivered through lectures, seminars, workshops and labs etc.
Assessment
- 100% Coursework 1: Each student will be asked to produce a conference standard poster describing a disease and mode/model of inheritance. In addition to the poster, they will be expected to produce a short abstract explaining the details presented in the poster and which will include references of primary literature (250 words). Each student will also present their poster however, the presentation will not be marked or count to the assignment grade. The presentation of poster is obligatory (2 minutes).
Assessed by end of spring semester
Educational Aims
To allow students to gain a range of skills necessary to understand the genetic and epigenetic basis of disease.Learning Outcomes
Knowledge and Understanding
By the end of this course/module, students will be able to:
1. Describe the principles of Mendelian inheritance and different models of genetic disease.
2. Describe different epigenetic processes and how they can modify disease phenotypes.
3. Interpret and discuss underlying rational for different genotype-phenotype relationships.
Transferable/Key Skills
By the end of this module, students will be able to:
2. Describe the genetic basis and clinical features of selected Mendelian and complex disorders.
3. Describe how disease genes are identified in terms of approaches and technologies.
4. Describe epigenetic processes and their contribution to disease.
5. Use genomic and epigenomic browser tools.