MSc Genomic Medicine / Course details

Year of entry: 2024

Course unit details:
Fundamentals of Human Genetics

Course unit fact file
Unit code BIOL67561
Credit rating 15
Unit level FHEQ level 7 – master's degree or fourth year of an integrated master's degree
Teaching period(s) Semester 1
Available as a free choice unit? Yes


The Fundamental of Human Genetics and Genomics unit is a subject-specific lecture-based module in the MSc Genomic Medicine programme. This unit will provide essential and contemporary knowledge relating to genomic science and genetic disease. The unit consists of a mixture of e-learning modules, taught lectures and tutorials. The lectures will be delivered by a range of clinical and non-clinical academic staff, many of whom are internationally recognised experts in their field. This unit will be attended by students from Programmes of MSc Genomic Medicine and STP Genomic Sciences.



This compulsory module ensures students have a good understanding of the molecular basis of human genetic diseases, and appreciate the contemporary technologies used in modern genomic medicine. Students will be equipped with advanced knowledge of the genomic mechanisms that give rise to human disease, understand the application of new technologies in the diagnosis and management of genetic diseases, gain knowledge of the genetic changes that occur in tumour development and how genetic variants contribute to common diseases. They will also gain insight into how understanding these mechanisms has enabled the development of improved treatments for genetic diseases.


Teaching and learning methods

The course contains 9 hours e-lectures, 5 hours face-to-face lectures and 5 tutorial type of learning sessions. The very first 2 hours e-lectures revise the basics of genomic medicine and will be particularly useful to students who may wish to refresh their knowledge of the basics of human genetics.


The following e-lectures should be completed before the start of the course:

1.   Basic background 1

2.   Basic background 2

3.   Chromosome abnormalities

4.   Epigenetics


The following e-lectures are standalone topics and can be completed at any time prior to the assessment.

1.   Cancer genetics 1

2.   Cancer genetics 2

3.   Common disease: Polygenic disorders, GWAS

4.   Treatment of genetic disease

5.   Population screening 


Knowledge and understanding

  • Discuss the human genome structure and the properties of DNA
  • Evaluate genome architecture and its variation across human populations
  • Evaluate the regulation of gene expression, transcription and translation
  • Appraise and interpret variation in genome structure and sequence in the context of physiological function and disease
  • Assess epigenetic modifications and imprinting and its role in disease
  • Explain the molecular mechanisms of Mendelian disorders
  • Interpret genotype-phenotype correlations
  • Appraise the current strategies for molecular diagnosis of genetic diseases using cutting edge technologies
  • Understand the molecular mechanisms involved in the development of cancer
  • Understand the difference between sporadic cancer and inherited cancer syndromes
  • Have an overview of the current and future potential therapeutic interventions for rare disorders 
  • Be able to calculate genetic risks for inherited conditions
  • Be able to interpret clinical reports from molecular genetic diagnostic laboratories.

Intellectual skills

  • Apply genomic medicine to routine clinical practice, and investigate genetic conditions.
  • Assess the appropriateness of applying new technologies to modern genomic medicine research.
  • Critically evaluate relevant scientific literature relating to new technologies and assess their application to modern genomic medicine.
  • Evaluate methods of investigating genetic conditions to select appropriate tests for individual patients and families.

Practical skills

  • Calculate genetic risks for Mendelian conditions using pedigree data, and the Hardy-Weinberg equation. 
  • Interpret clinical reports from molecular genetic diagnostic laboratories.
  • Correlate genetic markers to phenotype and interpret association study data for dichotomous and quantitative traits.

Transferable skills and personal qualities

  • Evaluate the benefits and limitation of contemporary knowledge of human genetics in clinical practice. 
  • Objectively review scientific literature.

Assessment methods

Method Weight
Other 50%
Written assignment (inc essay) 50%

Other: Multiple choice question exam.

Feedback methods

Formative and summative feedback given

Recommended reading

 Includes but is not limited to –

  1. Read, A and Donnai, D. New Clinical Genetics (3rd edition). Scion Publishing Ltd.
  2. Strachan, T and Read, A. Human Molecular Genetics (4th edition). Garland Science.

Study hours

Independent study hours
Independent study 150

Teaching staff

Staff member Role
Tao Wang Unit coordinator
Miriam Smith Unit coordinator

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