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MMB8031 : Genetics of Human Development

  • Offered for Year: 2024/25
  • Module Leader(s): Dr Louise Reynard
  • Lecturer: Dr Ralf Kist, Dr Colin Miles, Dr Gavin Clowry, Dr Helen Phillips, Professor David Elliott, Dr Katarzyna Pirog, Professor Lyle Armstrong
  • Deputy Module Leader: Dr Simon Bamforth
  • Owning School: Biomedical, Nutritional and Sports Scien
  • Teaching Location: Newcastle City Campus

Your programme is made up of credits, the total differs on programme to programme.

Semester 1 Credit Value: 20
ECTS Credits: 10.0
European Credit Transfer System


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.

Teaching Methods

Teaching Activities
Category Activity Number Length Student Hours Comment
Structured Guided LearningLecture materials41:004:00Non-synchronous online: pre-recorded lectures
Scheduled Learning And Teaching ActivitiesLecture82:0016:00Present in person (PIP): Lectures
Guided Independent StudyAssessment preparation and completion701:0070:00Preparation and Submission of 2000 word critique of research paper
Guided Independent StudyAssessment preparation and completion301:0030:00Preparation of Presentation on research paper
Scheduled Learning And Teaching ActivitiesPractical11:001:00Present in person (PIP): Practical Session
Scheduled Learning And Teaching ActivitiesSmall group teaching51:005:00Present in person (PIP): Delivery of presentation in front of teaching staff for assessing
Scheduled Learning And Teaching ActivitiesSmall group teaching22:004:00Present in person (PIP): Seminars
Guided Independent StudyIndependent study701:0070:00Preparing Notes from Lectures, Seminars and Reading for the exam
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 Methods

The format of resits will be determined by the Board of Examiners

Description Length Semester When Set Percentage Comment
Written Examination14401A6024 hour summative open book exam with a choice of 3 out of 5 short answer questions (maximum 1500 words total). No more than two hours should be spent on the exam.
Other Assessment
Description Semester When Set Percentage Comment
Report1M402000 word critique of a research paper. This is a summative assessment.
Formative Assessments

Formative Assessment is an assessment which develops your skills in being assessed, allows for you to receive feedback, and prepares you for being assessed. However, it does not count to your final mark.

Description Semester When Set Comment
Prof skill assessmnt1MFormative, individual, present in person 15 minute presentation of a research paper
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.

Reading Lists