LSC-20050 - Human Genetics
Coordinator: Sheila A 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 2022/23


Available as a Free Standing Elective






Barred Combinations


Description for 2022/23

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 students 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. This module builds on the Molecular Cell Biology and/or Cellular Genetics and Evolution modules and so a sound grasp of the molecular biology of nucleic acids will be assumed. Please note that in this module the delivery is very different to the standard live lecture and lab format and this will not necessarily suit everyone, especially those who do not like group work or prefer a more passive learning approach, so please consider this when deciding to choose the module. We will be taking a "flipped classroom" approach to the delivery, with pre-recorded lectures that students are expected to listen to before the timetabled sessions. This allows us to use the contact time for compulsory activities to help embed and expand upon the lecture material including problem-solving workshops, computer-based activities and interactive group sessions. To do well in this module, you will need to fully engage with all activities especially watching the preparatory lectures before the workshops.
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: 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: 1
interpret the information displayed in pedigree diagrams and construct pedigree diagrams from family histories: 2

Study hours

Scheduled learning and teaching: 8 X 2 -hour live workshops
Independent study hours: 8 hours asynchronous workshops; 60 hours viewing and outside reading associated with asynchronous lecture material, 3 hours webpage planning meetings; assessment preparation 60 hours; exam 3 hours

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 seen exam
Paper will be released on KLE at 9am on the morning of the exam. 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. Students should answer each question using Word, clearly labelling each question as they provide their answers. Work will be submitted to Turnitin no later than 5pm on the day of release. International students will be asked to notify the School if they need an extension due to different time zones. Although students have been given significant time to complete this exam script, we expect most students to spend no more than 3 hrs. Answers should be as accurate and concise as possible. Students should pay careful attention to the number of points that each question is worth. In general, we would expect only one or two sentences for each point.