BMD3014 : Human Disease Genetics (Inactive)
- Inactive for Year: 2025/26
- Module Leader(s): Dr Catherine Meplan
- Co-Module Leader: Professor James Allan, Professor Julie Irving
- Lecturer: Professor Heather Cordell, Dr Sarah Rice, Professor Volker Straub, Professor John Common, Professor Ian Hickson, Professor Quentin Anstee, Dr Laura Maringele, Dr Oliver Russell, Professor Deborah Henderson, Dr Louise Reynard
- 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
The aims of this module are:
1) To understand the contribution of genetics to human diseases development and treatment
2) To understand various genetic factors contributing to human disease and their interactions with lifestyle and environmental exposures as well as ageing
3) To use disease examples to illustrate the genetic basis for human diseases
4) To consider the social and ethical issues that can arise from the use and misuse of genetics and genetic information
Outline Of Syllabus
The module covers the following broad issues:
Definition of monogenic and complex genetic diseases
How to study the genetics of disease (study design including linkage studies, candidate studies, genome-wide studies).
Pharmacogenetics
Interaction between constitutional and somatic genetics
Interaction between genetics and exposures, such as diet, lifestyle factors and exogenous exposures
Epigenetics
Mitochondrial genetics
Genetics of development
Data Interpretation
Knowledge of key examples of human diseases, including monogenic and polygenic (complex) diseases.
Social and ethical issues arising from the study of human diseases.
Teaching Methods
Teaching Activities
| Category | Activity | Number | Length | Student Hours | Comment |
|---|---|---|---|---|---|
| Scheduled Learning And Teaching Activities | Lecture | 20 | 1:00 | 20:00 | lectures |
| Scheduled Learning And Teaching Activities | Small group teaching | 1 | 2:00 | 2:00 | patient representative seminar |
| Scheduled Learning And Teaching Activities | Small group teaching | 2 | 1:00 | 2:00 | seminar |
| Guided Independent Study | Independent study | 1 | 176:00 | 176:00 | Writing up lecture notes, revision and general reading |
| Total | 200:00 |
Teaching Rationale And Relationship
Lectures will provide key concepts of the role of genetic factors in human disease and of methodologies used to study these diseases. Lectures will also provide key concepts on the impact of genetic on pharmaceutical drug design and effects. These will form the basis of a student’s understanding of a subject.
Seminars / Small group teaching will encourage contextualisation of taught material through discussion with patients. Small group teaching will also provide provide the students with an opportunity to have a broad-based discussion of some of the major issues in medical science, and support for students in their preparation for the assessment format and help them develop key critical-thinking and problem-solving skills.
Independent study will allow students to extend their knowledge and prepare for assessments through consolidation of module content, reading of books, journal articles and other recommended references.
In-course assessments (including formativepractical quizzes, essays) spread throughout the module will teach students time management and organisation and encourage independent working as well as supporting their understanding of the subject
Assessment Methods
The format of resits will be determined by the Board of Examiners
Exams
| Description | Length | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|---|
| Written Examination | 120 | 2 | A | 60 | Invigilated exam. 2 questions from a choice of 4 (closed book) |
Other Assessment
| Description | Semester | When Set | Percentage | Comment |
|---|---|---|---|---|
| Prob solv exercises | 1 | M | 40 | Paper interpretation exercise (PIE),120 minutes, invigilated |
Assessment Rationale And Relationship
The invigilated exam essay will test the student's knowledge and understanding of the subject and the ability of the students to integrate material from different parts of the course and within the context of published material. The exam questions are designed to enable the students to critically evaluate the information they have accrued during the module and demonstrate the scope of their reading and the extent to which they have been able to understand it.
The invigilated paper interpretation exercise will test the understanding of research literature, discipline knowledge, data analyses, methodologies and critical appraisal abilities. The PIE will prepare the students for working under time-restricted conditions in an invigilated setting.
Reading Lists
Timetable
- Timetable Website: www.ncl.ac.uk/timetable/
- BMD3014's Timetable