BSc Biomedical Sciences with Entrepreneurship / Course details

Year of entry: 2024

Course unit details:
Human Genetics & Evolution (E)

Course unit fact file
Unit code BIOL31402
Credit rating 10
Unit level Level 3
Teaching period(s) Semester 2
Available as a free choice unit? No


You will be able to explain how human populations evolved using evidence supported by the fossil record as well as advances in sequencing technologies. You will form an understanding of human genome sequence diversity, and how different types of pathological sequence variations cause genetic disease. Topics include: human evolution, population migrations, population sequence diversity, evolution of genetic disease, analysis of genetic disease in population-based research, diagnosis of genetic disease, molecular basis of genetic disease, personalised medicine. The balance of topics in this unit is approximately 1/3 evolution, 2/3 genetic disease.


Unit title Unit code Requirement type Description
Genes, Evolution and Development BIOL10521 Pre-Requisite Recommended
Organismal Genetics BIOL21371 Pre-Requisite Recommended
Fundamentals of Evolutionary Biology BIOL21232 Pre-Requisite Recommended


The study of human genetic complexity and disease is a rapidly expanding field driven by advances in new technologies which facilitate large-scale projects to catalogue human genetic variation. These large-scale sequencing projects have revealed support for our understanding of human evolution and population migrations based on the fossil record.  These studies have also revealed the extent of human genome sequence variations.  However, understanding the link between genetic variation and the resulting phenotype presents challenges, as is apparent from large-scale association studies. This unit will explore how studying human genome sequences can inform our understanding of genetic disease and evolution.

Learning outcomes

Students will be able to:

  • Explain how human populations evolved using evidence supported by the fossil record as well as advances in sequencing technologies.
  • Describe the types and frequency of sequence variants in human genomes
  • Describe large-scale human genome sequencing projects
  • Explain the use of association studies to find polygenic disease variants
  • Explain the molecular pathology of monogenic genetic diseases
  • Describe methods for diagnosing genetic diseases
  • Explain how identifying sequence variants influences medical treatments
  • Develop literature searching skills and use of publically available genetic databases for coursework.


  • Introduction; course overview, assessments and feedback, human evolution and disease genetics, prior knowledge.
  • Genome Sequencing and Human Evolution - comparisons between modern humans and extinct hominins, evidence of interbreeding and gene transfer.
  • Archaeogenetics - the fossil record, Y chromosome and mitochondrial evolution, population migration.
  • Analysis of genetic diversity in modern humans - sequence variation, copy number variation, large-scale population analysis.
  • Dynamic mutations - trinucleotide repeat expansions and associated diseases.
  • Molecular pathology of Mendelian diseases.
  • Genetic imprinting and human diseases. Inheritance pattern of imprinted alleles.
  • Copy-number variation - non-allelic homologous recombination, deletions and duplications.
  • Chromosomal abnormalities and developmental diseases.
  • Association studies and genetic basis of common diseases - multifactorial and polygenic diseases.
  • Diagnosis of genetic disease - current methodologies.
  • Population screening and pharmacogenetics; personalised medicine.
  • Genetics Careers workshop.

Employability skills

Analytical skills
Students complete scenarios using databases to solve eLearning problems.
Students have to search for answers to questions posed as eLearning problems.
Oral communication
Students get the opportunity to ask questions of professionals working in genetics careers at the careers workshop session
Problem solving
Students complete scenarios using databases to solve eLearning problems.
Written communication
Students complete an essay based exam.

Assessment methods

Method Weight
Written exam 80%
Set exercise 20%

Feedback methods

Students will receive feedback on their understanding of the course material by the completion of a series of ePBL exercises including multiple choice questions and answer explanations. A bullet-point outline answer to a past exam question will be provided on Blackboard to support exam preparation.

Recommended reading

  • Jobling, Hurles, and Tyler-Smith. Human Evolutionary Genetics. Garland Science
  • Strachan and Read. Human Molecular Genetics (4th Edition). Garland Science

Study hours

Scheduled activity hours
Assessment written exam 2
Lectures 18
Independent study hours
Independent study 80

Teaching staff

Staff member Role
Emma Jenkinson Unit coordinator
Miriam Smith Unit coordinator

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