MMB8031 : Genetics of Human Development
- Offered for Year: 2024/25
- Module Leader(s): Dr Louise Reynard
- Lecturer: Dr Colin Miles, Dr Gavin Clowry, Dr Helen Phillips, Professor David Elliott, Dr Katarzyna Pirog, Professor Lyle Armstrong, Dr Ralf Kist
- Deputy Module Leader: Dr Simon Bamforth
- Owning School: Biomedical, Nutritional and Sports Scien
- Teaching Location: Newcastle City Campus
Semesters
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 | |
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.
Teaching Methods
Teaching Activities
| Category | Activity | Number | Length | Student Hours | Comment |
|---|---|---|---|---|---|
| Scheduled Learning And Teaching Activities | Lecture | 8 | 2:00 | 16:00 | Present in person (PIP): Lectures |
| Guided Independent Study | Assessment preparation and completion | 70 | 1:00 | 70:00 | Preparation and Submission of 2000 word critique of research paper |
| Guided Independent Study | Assessment preparation and completion | 30 | 1:00 | 30:00 | Preparation of Presentation on research paper |
| Structured Guided Learning | Lecture materials | 4 | 1:00 | 4:00 | Non-synchronous online: pre-recorded lectures |
| Scheduled Learning And Teaching Activities | Practical | 1 | 1:00 | 1:00 | Present in person (PIP): Practical Session |
| Scheduled Learning And Teaching Activities | Small group teaching | 5 | 1:00 | 5:00 | Present in person (PIP): Delivery of presentation in front of teaching staff for assessing |
| Scheduled Learning And Teaching Activities | Small group teaching | 2 | 2:00 | 4:00 | Present in person (PIP): Seminars |
| Guided Independent Study | Independent study | 70 | 1:00 | 70:00 | Preparing Notes from Lectures, Seminars and Reading for the exam |
| Total | 200:00 |
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
Exams
| Description | Length | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|---|
| Written Examination | 1440 | 1 | A | 60 | 24 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 |
|---|---|---|---|---|
| Report | 1 | M | 40 | 2000 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 assessmnt | 1 | M | Formative, 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
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- MMB8031's Timetable