Studying at York
Human Genetics - BIO00076H
Module summary
We are witnessing a period of very rapid change in our knowledge and capabilities in the area of human genetics, thanks to genome sequencing and related technologies, and promising new therapeutic approaches. This module will introduce the current picture and provide the necessary background to understand how the field is developing.
Related modules
Pre-requisite modules
Co-requisite modules
- None
Prohibited combinations
- None
Module will run
| Occurrence | Teaching period |
|---|---|
| A | Autumn Term 2022-23 to Summer Term 2022-23 |
Module aims
This module will first introduce a description of the human genome and its evolution, with an emphasis on the features that can explain the prevalence of certain diseases in modern day humans. The classical processes of mutation identification in single gene disorders and the impact of modern technologies will be critically appraised using primary research literature. A variety of templates and formative examples will be used for calculations of genetic risk in human pedigrees. We will look into the current methodologies used to identify risk alleles in complex diseases and how these large studies have contributed to the diagnosis of common diseases. We will discuss the generation of preclinical disease models and appraise their role in understanding disease pathogenesis and the developing of new therapeutic genetic approaches. We will finally explore the role of human genetics in non-clinical scenarios, such as intelligence or athletic performance, and the variety of ethical issues that may arise as a result of genetic testing.
Module learning outcomes
1. Describe the evolution of the human genome and the processes that affected it.
2. Calculate genetic risk in human pedigrees in simple and complex scenarios.
3. Explain how genes associated with Mendelian or multifactorial disorders can be identified.
4. Evaluate the association genetic approaches used to diagnose diseases
5. Articulate the making of preclinical disease models and their role in disease therapeutics
6. Critically appraise current literature associated with specific topics in human genetics
Indicative assessment
| Task | % of module mark |
|---|---|
| Online Exam - 24 hrs (Centrally scheduled) | 100 |
Special assessment rules
None
Indicative reassessment
| Task | % of module mark |
|---|---|
| Online Exam - 24 hrs (Centrally scheduled) | 100 |
Module feedback
Cohort-level feedback will be provided on performance in closed exams and made available via the VLE. Histograms of module marks will be posted on the notice boards outside the Biology Student Services office. Individual marks will be made available to you and your supervisor via e:vision. Exam scripts will be made available at the end of either the Spring or Summer terms. You should take the opportunity to discuss your marks and feedback with your supervisor.
During the teaching of the module you will receive feedback that may be at a whole class or individual level. Forms of feedback may include: model answers and discussion of workshop questions, summaries of performance in practicals, VLE-based quizzes, individual spoken comments during workshops, individual written comments on formative work.
Indicative reading
These are available through the VLE module site.