LSC-20050 - Human Genetics
Coordinator: Sheila Hope Room: Hux230 Tel: +44 1782 7 33674
Lecture Time: See Timetable...
Level: Level 5
Credits: 15
Study Hours: 150
School Office: 01782 734414

Programme/Approved Electives for 2023/24


Available as a Free Standing Elective






Barred Combinations


Description for 2023/24

The field of Human Genetics is growing rapidly in the post-genomic age and this module aims to sample a few of the key topics. It will demonstrate the predictable behaviour of genes at the levels of the individual and the population (Mendelian and population genetics), whilst making you aware that the nature of human societies means that sometimes genes don't appear to behave as predicted! There will be an emphasis on medical genetics, showing how a person's genetic make-up can directly or indirectly affect their health and exploring some of the applications of molecular genetics in the study of, diagnosis of and treatment of genetic diseases. We shall also consider some of the ethical implications of advances in genetic technologies. We will be taking a blended approach to the delivery. By using pre-recorded core material, we can maximise the effectiveness of the contact time by doing more active learning activities designed to help embed to lecture material including: problem-solving workshops, computer-based activities and interactive group sessions. The workshops are a mix of live classes (either via Microsoft Teams or face to face) and asynchronous student-centred activities.
Topic 1 Inheritance Patterns in Humans.
This topic includes revision of meiosis and classical Mendelian genetics, molecular pathology (the basis for dominance and recessivity), genetic and environmental influences on phenotype, human genetic elements, and patterns of Mendelian and non-Mendelian inheritance in humans.
Topic 2 Quantitative and Population Genetics
This topic gives a brief introduction to population and quantitative genetics and includes the Hardy-Weinberg Law, calculation of gene frequencies and heritability.
Topic 3 Clinical Applications of Genetics
This topic examines the types of genetic diseases that affect humans (e.g. single gene, multigene, multifactorial, chromosome abnormalities and somatic disease) and how molecular genetics has revolutionised diagnosis and treatment in medical genetics.

The module aims to demonstrate the predictable behaviour of genes at the level of the individual and the population. It will show how the genetic makeup of an individual can directly or indirectly affect their health. It will explore some of the applications of molecular genetics in the study of, diagnosis of and treatment of genetic diseases. The interactive nature of the module allows students to develop their key skills including: numeracy (calculations), data analysis, computing skills (word-processing, database searching); library research skills, team working and debating skills.

Talis Aspire Reading List
Any reading lists will be provided by the start of the course.

Intended Learning Outcomes

describe and explain the molecular and cellular basis of the main patterns of inheritance in humans: 1,2
apply the rules of population genetics to calculate gene frequencies and calculate genetic risk for fully penetrant traits: 2
explain the importance of quantitative genetics in the study of complex human disease and traits (e.g twin concordance studies) and apply this knowledge to calculate heritability of multifactorial traits: 2
apply Bayesian statistics to calculate genetic risk for incompletely penetrant traits: 2
give examples of inherited and acquired genetic diseases and explain in detail how the genetic or chromosomal defects may have been generated: 1,2
apply web-based technologies to access and extract information from online databases (such as the OMIM database) and to deliver information: 1
explain and evaluate how molecular genetics and related "omics" technologies can be applied in the diagnosis and treatment of genetic disease and be able to interpret diagnostic test results: 2
discuss some of the ethical issues raised by advances in genetics: 2
interpret the information displayed in pedigree diagrams and construct pedigree diagrams from family histories: 2

Study hours

Active learning hours: 8 X 2 -hour live workshops, 2 hour asynchronous workshop; 2 x 2hour tutorials; 28 hours structured engagement with online activities.
Independent study hours: 2 hour exam; 20 hours researching and working on course work; 78 hours revision and exam preparation.

School Rules


Description of Module Assessment

1: Group Project weighted 20%
Team web site
Students will work in teams of 4-6 to develop a website based on the pathology, genetics, diagnosis and treatment of a genetic disease, aimed at patients and carers. Students will have a preparatory workshop. The mark will be a team mark, rather than individual marks.

2: Open Book Examination weighted 80%
Online open book assessment, 2 hours with an 8 hour submission window.
Paper will be released on KLE at 9am on the morning of the assessment for submission by 5pm. Comprising short answer questions (such as calculations, problem solving, interpretation of diagrams, brief factual descriptions etc), many of which are presented as real-life scenarios. Students should attempt all questions. Although students have been given significant time to complete this exam script, we expect most students to spend no more than 2 hours.