Module Catalogue 2025/26

Pre Requisite Comment

N/A

Co Requisite Comment

Students wishing to graduate with an MRes in Medical Genetics must undertake this module and MMB8030 Genetic Medicine.

This module is open to all other MRes students.

Aims

Our DNA controls how our bodies develop and function, from the moment of fertilisation onwards. Any mistakes in our genetic code, whether inherited from parents, a de novo mutation or common variation, can result in phenotypic consequences ranging from rare Mendelian disorders to common complex traits and diseases. This module focuses on understanding the consequences of the genetic variation – the relationship between genotype and phenotype – from a research perspective (uncovering biological mechanisms, leading to the potential for development of new treatments), thus complementing the material taught MMB8030 which takes more of a clinical diagnostic perspective. The module is taught by clinical and research colleagues from the Faculty of Medical Sciences, and the primary aims of this module are to:

• inform students about common and rare genetic variation and the genetics of Mendelian and non-Mendelian (complex) disease.

• introduce students to the different strategies and information input required to identify genes in complex diseases.

• compare the various practical approaches used to identify the genetic basis of common complex diseases and to elucidate the role of genes in causing disease.

• provide students with a comprehensive knowledge about the latest research technologies applied to the analysis and understanding of gene functions

• showcase research carried out in Newcastle and beyond that investigates the molecular mechanisms linking genotype to phenotype, and show how this knowledge can lead to clinical benefit.

Outline Of Syllabus

The module will cover:

Genetic variation and the definition of Mendelian and complex genetic diseases.

Genome-wide association studies.

Data/results interpretation and use of computer packages for performing statistical genetic analysis

Knowledge of key examples of Mendelian and complex diseases

The role of DNA enhancers and target gene expression in development and disease

Human tissue-specific gene expression analysis and online databases.

Practical approaches to investigate gene function in vivo and their application in medical genetics.

Intended Knowledge Outcomes

By the end of this module students should be able to:

1. Discuss the basic principles and concepts of Mendelian and complex disease genetics as applied to a range of different diseases.

2. Describe the main research strategies and laboratory methods used in investigating the genetics of Mendelian and complex diseases

3. Critically discuss the potential and limitations of research strategies to investigate gene function

4. Give examples of the molecular basis of some inherited developmental and common complex disorders

Intended Skill Outcomes

By the end of the module the students should be able to:

1. Consider and interpret data from studies of Mendelian and complex disease

2. Critically appraise current literature especially in the area of study design

3. Efficiently design and construct an appropriate research proposal to investigate genetic causes of disease and their underlying molecular mechanisms.

4. Develop skills in abstract writing, summarising research in a succinct manner.

Teaching Rationale And Relationship

Lectures will provide the students with a specific knowledge as a platform for private study. Together with computer practicals and workshops, these lecture materials will encourage the students to reflect both individually and in small groups on the state of knowledge in research in Mendelian and complex diseases. The workshops will encourage the students to reflect on their learning. Students will also practice critical appraisal, data analysis and interpretation during the computer workshops. All of these activities relate directly to the learning outcomes above.

Assessment Rationale And Relationship

A summative end of module written assessment will test the student’s knowledge, understanding and critical thinking skills, as well as engagement with the series of lectures, seminars and computer workshops delivered throughout the module.

The lectures and seminars will provide specific knowledge and key facts in methods to investigate the molecular mechanisms linking genetic variants/mutations to disease phenotype. Together with self-directed reading and study, this will enable the students to develop their own 2000 word research proposal focusing on functional characterisation of a disease-associated genetic variant. This assessment will test the student’s ability to critically appraise the potential benefits and limitations for different methods used to investigate the underlying molecular mechanisms of genetic causes of disease, and select the most appropriate research strategies for functionally characterising a specific DNA variant/mutation.

The formative written exercise entails writing a 250 word lay abstract and a 250 word scientific abstract based on research outlined in the summative research proposal. This assessment will support students understanding of the topic and gain skills in summarising research for a scientific and lay audience. Feedback on this assessment will help improve students’ performance in future assessments, including the Research Proposal itself as well as the Research Project lay abstract assessment in semester 3.

General Notes

N/A