Accessibility statement

Human Genetics - BIO00076H

« Back to module search

  • Department: Biology
  • Module co-ordinator: Dr. Gonzalo Blanco
  • Credit value: 20 credits
  • Credit level: H
  • Academic year of delivery: 2024-25

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 first introduce a description of the human genome, its evolution and how developmental genetics has informed us on malformation disorders. We will analyse rare Mendelian disorders, using human pedigrees and a variety of formative examples to calculate genetic risk.The classical processes of mutation identification in single gene disorders and the impact of modern technologies will be critically appraised using primary research literature. We will discuss the generation of preclinical disease models and appraise their role in understanding disease pathogenesis and the developing of new therapeutic approaches. We will then describe new genome-wide approaches to understanding disease and new tools to understand the patterns and clinical relevance of acquired somatic mutations.

Module will run

Occurrence Teaching period
A Semester 2 2024-25

Module aims

This module aims to articulate the role of genetics in rare and common inherited diseases, working through problem scenarios and primary research articles. The student will apply knowledge of human developmental genetics to make informed predictions about a range of congenital conditions. We will evaluate the workings of experimental designs that have succeeded in identifying mutations and risk alleles in highly penetrant Mendelian diseases, complex diseases and somatic mutations. Students will develop a picture of how current technologies are exploiting genetic knowledge to facilitate counselling, diagnosis and therapeutic developments in genetic disorders.

Module learning outcomes

Students who successfully complete this module will be able to:

Calculate genetic risk in human pedigrees in simple and complex scenarios

Describe the evolution of the human genome and the processes that affected it

Explain how genes associated with Mendelian and multifactorial disorders can be identified

Discuss how preclinical disease models are made and their role in disease therapeutics

Evaluate the association and integrated omics approaches used to diagnose and understand complex diseases

Explain the clinical and biological relevance of somatic mutations

Critically evaluate research data and experimental design

Solve human genetics problems


Task Length % of module mark
Online Exam -less than 24hrs (Centrally scheduled)
Online Exam
6 hours 100

Special assessment rules



Task Length % of module mark
Online Exam -less than 24hrs (Centrally scheduled)
Online Exam
6 hours 100

Module feedback

Marks for all summative assessments will be made available to you and your supervisor via e:vision. Feedback will be either individual or cohort-level, depending on the assessment format. You should take the opportunity to discuss your marks and feedback with your supervisor.

For exam-style summative assessment, model answers will be provided for all questions along with cohort-level feedback indicating how students answered questions in general. Marks achieved per question will be added to your script.

For coursework assessments (eg. reports or essays) you will receive individual feedback on your work. This will usually be in the form of a feedback sheet that will include suggestions for further improvement.

During the teaching of the module you will receive formative feedback that may be at a whole class or individual level. Such 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.

The information on this page is indicative of the module that is currently on offer. The University is constantly exploring ways to enhance and improve its degree programmes and therefore reserves the right to make variations to the content and method of delivery of modules, and to discontinue modules, if such action is reasonably considered to be necessary by the University. Where appropriate, the University will notify and consult with affected students in advance about any changes that are required in line with the University's policy on the Approval of Modifications to Existing Taught Programmes of Study.