BSc Medical Biochemistry
Year of entry: 2022
- View tabs
- View full page
Course unit details:
Gene Regulation & Disease (E)
|Unit level||Level 3|
|Teaching period(s)||Semester 1|
|Offered by||School of Biological Sciences|
|Available as a free choice unit?||No|
Changes in gene expression are major factors underlying human disease. This unit aims to provide advanced level training and understanding of the molecular mechanisms underlying a wide variety of genetic and infectious diseases, focussing on those that alter specific factors that have direct roles in the gene regulation-from chromatin remodelling and mRNA transcription, to RNA splicing, RNA localization and stability, and translation. Disorders covered will include common disorders such as cancer, diabetes, obesity, cancer and viral infection as well as rarer genetic conditions.
|Unit title||Unit code||Requirement type||Description|
|`Omic Technologies & Resources||BIOL21152||Pre-Requisite||Recommended|
|Genome Maintenance & Regulation||BIOL21101||Pre-Requisite||Recommended|
Changes in gene expression are major factors underlying human diseases. This Unit aims to provide advanced level training and understanding of the molecular mechanisms underlying a wide variety of genetic and infectious diseases, focussing on those that alter specific factors that have direct roles in the gene regulation-from chromatin remodelling and mRNA transcription, to RNA splicing, stability and translation. There will also be examples provided of basic research into fundamental mechanisms of control, including mouse models, where this enables a more complete understanding of the molecular processes underlying the diseases described. Where practical, primary research findings will be used to support the derived disease mechanisms with events described at the molecular level as well as whole organism consequences.
This unit is ideal for Biochemistry, Genetics and Molecular Biology students as well as those taking more medically focussed degrees and options (eg Medical Biochemistry, Biomedical Sciences).
Students will be able to:
• Understand the importance of gene regulation for human health and disease.
• Describe the molecular defects underlying specific diseases and the consequences of these for cells, tissues and the whole organism.
• Describe the application of research methods used to investigate these processes and uncover relevant molecular mechanisms.
• Understand, analyse and interpret primary research findings and be able to describe how these are used to develop logical explanations for disease processes, tests and/ or treatments
• Understand how to find, identify and interpret key data, concepts and ideas. To think critically about the scientific evidence and to be able to pass the knowledge gained on to others in an academically acceptable manner.
- The lectures will cover aspects of both common and multi-factorial disorders that afflict increasing numbers in the population (diabetes, obesity, cancer) and several specific 'orphan' genetic diseases selected from the increasing range uncovered as well as common infectious viral diseases.
- The consequences of disease mutations for protein-protein or protein-nucleic acid interactions and protein functions at the molecular level will be coupled with studies of mutation consequences for tissues, organs and the whole animal.
- The latest research findings will reveal the diversity of control mechanisms uncovered and show common themes where they exist.
- Where available, information concerning therapeutic approaches will be described.
- A self-directed eLearning module will supplement lecture material.
- Analytical skills
- Students have an E-learning module that requires interpretation of experimental data. Analysis of primary research described in lecture and in the supplementary reading.
- Oral communication
- Students are encouraged to answer questions during lectures.
- Problem solving
- E-learning module requires problem solving skills.
- Lecturers show the primary research experiments that back up the biology. Students are encouraged to read other similar papers.
- Written communication
- Students write a timed essay in a lecture.
|Written assignment (inc essay)||5%|
Individual feedback on exam-style essay answers based on relevant questions from a past paper. Feedback on essay content and style will be returned to the students within 15 days from the submission deadline. An online Blackboard self-directed e-learning module supports various aspects of the lectures and the final week of the unit is devoted to the assessed essay and feedback as well as exam preparation. After the examination, during semester 2, an exam performance session will allow students to view their scripts, marks and comments made.
Primary articles and review articles given in lectures. Copies available on Blackboard.
|Scheduled activity hours|
|Assessment written exam||2|
|Independent study hours|
|Graham Pavitt||Unit coordinator|
The length of written exam for this module is to be confirmed and is unlikely to remain 2 hours.