Module Catalogue 2024/25

Pre Requisite Comment

none

Co Requisite Comment

Students wishing to graduate with the MRes in Medical Genetics must undertake MMB8030 Genetic Medicine and either MMB8014 (Genetics of Common Disease) or MMB8031 (genetics of Human Development) as well as completing a project in Medical Genetics.

Aims

Our genes control how our bodies develop, from the moment of fertilisation until birth. Any mistakes in our genetic code, whether inherited from parents, a de novo mutation or one caused by an environmental insult, can result in devastating birth defects. The importance of being able to identify genetic mutations is becoming widely acknowledged with government funded schemes now in place to capture the genomes of 100,000 newborn babies to identify the genetic causes of rare disease and to allow faster diagnoses and treatment. This module is taught by clinical and research colleagues from the Faculty of Medical Sciences, and the primary aims of this module are to:

1) introduce students to the genetic mechanisms controlling developmental processes,

2) illustrate the importance of identifying and evaluating inherited disorders in humans, and

3) provide students with a comprehensive knowledge about the latest research technologies applied to the analysis and understanding of gene functions in the developing mammalian embryo.

Lectures will cover a wide range of clinical birth defects and focus on the genetic control of organ development. Details of current and active research projects using state-of-the-art laboratory techniques will illustrate how the role of individual genes in the process of human development are investigated and understood. Genetics of Human Development is one of the suite of modules that comprise the MRes in Medical Genetics, but can also be taken as a standalone module in conjunction with other programme specific modules.

Outline Of Syllabus

This module will teach fundamental principles of human developmental genetics and will explain how they impact on medically relevant research areas through the delivery of the taught sessions describing topical research projects currently carried out by group leaders involved in teaching on this module.

Specifically, the module will consider:

•       The clinical spectrum of common birth abnormalities caused by genetic and variants.

•       The genetic control regulating the development of major organ systems.

•       Key signalling pathways in development.

• The role of DNA enhancers and target gene expression in development.

•       Human tissue-specific gene expression analysis and online databases.

•       Syndromes associated with disrupted functions of key developmental control genes.

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

•       The importance of developmental processes to the therapeutic potential of embryonic and somatic stem cells.

Intended Knowledge Outcomes

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

1. explain key aspects of genetic and developmental processes and describe how they converge to regulate the formation of a mammalian body

2. give examples of the molecular basis of some inherited developmental disorders

3. interpret novel research outcomes in the field of developmental genetics

4. discuss the potential and limitations of research strategies to investigate gene function during embryonic development

5. consider and integrate the importance of developmental genetics aspects for other, medically relevant research areas

Intended Skill Outcomes

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

1. critically appraise data from developmental genetics studies and to communicate these orally and in writing

2. evaluate the significance of scientific publications in the field of developmental genetics

3. efficiently design appropriate research strategies to investigate gene functions in mammalian and other vertebrate model organisms

Teaching Rationale And Relationship

The lectures and interactive seminars will provide the students with specific knowledge as a platform for private study on current areas of human developmental genetic research. The practical is an introduction to the UCSC Genome Browser, how to display your own genomic data (e.g. novel mutations underlying developmental defects) and use of UCSC tools to integrate data from different sources including ClinVar database, GTEx and ENCODE projects. This will be very useful for research the students may do in the future.

Assessment Rationale And Relationship

Lectures on modelling developmental disorders, small group teaching (seminars), and a practical will provide specific knowledge and key facts in Developmental Genetics. Together with self-directed reading and study this will enable the students to critically appraise investigations in the field of Developmental Genetics. A summative assessment in critiquing a research paper, in the form of a 2000 word essay, will test the student’s analytical skills, to evaluate experimental data and to understand how principles in developmental genetics impact on a wider area of medical research. A summative end of module written exam will test the student’s knowledge, understanding and critical thinking skills, as well as engagement with the series of lectures, seminars and practicals delivered throughout the module.

A formative assessment of an oral presentation of a published research paper will the give the student experience in communicating scientific data to an audience of their peers and lecturers. Verbal feedback will be given for this.

General Notes

N/A