MSc Investigative Ophthalmology and Vision Science / Course details
Year of entry: 2024
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Course unit details:
Genetics of the Eye
| Unit code | OPTO70322 |
|---|---|
| Credit rating | 15 |
| Unit level | FHEQ level 7 – master's degree or fourth year of an integrated master's degree |
| Teaching period(s) | Semester 1 |
| Available as a free choice unit? | No |
Overview
This unit will provide essential and contemporary knowledge relating to ophthalmology in the context of genetic and genomic science and genetic disease.
Aims
The unit aims to provide an introduction to the genetics and genomics associated with eye development, disease and treatment.
Lectures will introduce the topics of DNA and genes, protein characterization and functional analysis, molecular genetics and diagnosis, and therapeutic interventions.
Students will gain an understanding of: eye development; the importance of understanding tissue types and cell function in relation to genetic disease; several forms of genetic eye disease; an understanding of using genomic technologies for molecular diagnosis, and how to interpret NGS data; the potential for gene and stem cell therapy for retinal and ocular disease.
By the end of this unit the student will be able to:
- understand the relevance of genetics and genomics to ophthalmology
- understand the impact and relevance of inherited disease in the context of ophthalmology
- understand the context of genome architecture and its variation; regulation of gene expression; variation in genome structure and sequence in the context of inherited eye disease
- correlate genetic variants to phenotype and interpret study data for inherited ophthalmic traits, thereby understanding molecular mechanisms of Mendelian disorders
- understand the current strategies for molecular diagnosis of genetic ophthalmic diseases using cutting edge technologies
- understand the science and application of animal models and genomic technologies in relation to ophthalmology
- be able to understand and interpret scientific papers in the field of genomics pertaining to ophthalmology
- use a variety of genetic and genomic resources to understand genetic eye disease and genomic technologies for their treatment
- work individually and as part of a group to understand, interpret and present topics on the genetics, genomics and molecular biology of eye development, disease and treatment.
Teaching and learning methods
The course contains 20 hours of face-to-face lectures, tutorials or workshop type of learning.
There are also 2 hours of e-lectures before the start of the course to introduce the basics of genetics.
Knowledge and understanding
Students will be able to:
- use advanced knowledge in specialised genomic medicine, appraise the application of new technologies in the diagnosis and management of genetic diseases, and explain the importance of research systems (e.g. animal models and stem cells) to further research and treatment of genetic ophthalmic disease.
- understand how human genetics can be applied to clinical care in the context of ophthalmology.
Intellectual skills
Students will be able to:
- illustrate how genomic medicine is applied to routine clinical practice outside of clinical genetics, and describe how genetic conditions are investigated
- evaluate how new technologies are applied in modern genomic medicine.
Practical skills
Students will be able to:
- interpret next generation sequencing data, access, and understand genomic databases.
Transferable skills and personal qualities
Students will be able to:
- work as part of a group to understand, interpret and present topics on unfamiliar topics.
Assessment methods
| Assessment | Length | Feedback | Weighting |
|---|---|---|---|
| Analysis, interpretation and review of an original research paper | 1500 words | Written feedback within 15 working days | 80% |
| Oral group presentation of an original research paper | 15 minutes and 5 min Q&A | Verbal feedback on the day | 20% |
Feedback methods
Feedback will be provided in line with University policy,
Recommended reading
Online content available through Blackboard for the unit BIOL67561 Fundamentals of Human Genetics:
- Basic Background Two
- Chromosome Variants and Abnormalities
- Epigenetics
- An Introduction to the Human Genome
- https://www.nature.com/articles/d41586-018-06956-3
- https://www.nature.com/articles/s41591-019-0346-1
- https://www.sciencedirect.com/science/article/pii/S1350946218300077?via%3Dihub
For students with less prior human genetics background the following web links may provide helpful background reading:
Study hours
| Scheduled activity hours | |
|---|---|
| Lectures | 20 |
| Independent study hours | |
|---|---|
| Independent study | 130 |
Teaching staff
| Staff member | Role |
|---|---|
| Forbes Manson | Unit coordinator |