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Module

BGM2057 : Medical genomics: from DNA to disease

  • Offered for Year: 2020/21
  • Module Leader(s): Dr Katarzyna Pirog
  • Lecturer: Dr Joanna Elson, Professor Lyle Armstrong, Dr Ian Wilson, Professor Heather Cordell, Dr Simon Bamforth, Professor John Sayer, Dr Louise Reynard, Dr Michael Jackson, Dr Mauro Santibanez Koref
  • Owning School: Biomedical, Nutritional and Sports Scien
  • Teaching Location: Newcastle City Campus
Semesters
Semester 2 Credit Value: 20
ECTS Credits: 10.0

Aims

1) To describe in detail, the organisation of the human genome, including an overview of human variation and major projects investigating it.
2) To consider mechanisms for regulating gene expression and experimental approaches for studying gene expression.
3) To provide an overview of model organisms used in biomedical research and to consider approaches used to generate mouse models.
4) To consider different approaches for identifying genes underlying human genetic disorder and characterizing their functions.

Outline Of Syllabus

This module moves from describing the organisation of the human genome, through gene regulation and expression to methods and approaches for identifying genes involved in human genetic disorder and characterising their functions.

The module syllabus will contain:

-a detailed description of the organisation of the human genome and an introduction to how this influences mutation, variation, and function

-exploration of regulatory mechanisms controlling gene expression and approaches to studying expression patterns

-an overview of model organisms and classical and recent approaches for generating mouse models

-approaches for studying human genetic disorders will be discussed, covering some of the methods used to identify the underlying causative genes and what is known of gene function

Teaching Methods

Please note that module leaders are reviewing the module teaching and assessment methods for Semester 2 modules, in light of the Covid-19 restrictions. There may also be a few further changes to Semester 1 modules. Final information will be available by the end of August 2020 in for Semester 1 modules and the end of October 2020 for Semester 2 modules.

Teaching Activities
Category Activity Number Length Student Hours Comment
Structured Guided LearningLecture materials181:0018:00Non-sync online. Lecture material and quizzes/interactive material to maximise student engagement
Guided Independent StudyAssessment preparation and completion150:0050:00Preparation for in-course assessment and exams
Guided Independent StudyAssessment preparation and completion24:309:00Students will prepare for practicals using references & online material provided by pract leaders
Scheduled Learning And Teaching ActivitiesPractical23:006:00PIP - Computer based practicals to gain both knowledge and skills and prep for material taught in y3
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00Sync online seminar, how to write SAQ work to support prep for SAQ assessment and examination
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00Sync online feedback session after in-course SAQ summative assessment
Scheduled Learning And Teaching ActivitiesSmall group teaching12:002:00Sync online revision session before SAQ examination
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00Sync online seminar/debate on genetic testing, 23 and me & ethical implications of genomic medicine
Guided Independent StudyIndependent study1112:00112:00Writing notes and reflecting on lectures based on text books and Recap lectures
Total200:00
Teaching Rationale And Relationship

Lecture materials will provide the majority if the knowledge base. The lectures should stimulate the students to reflect and read further from textbooks and references highlighted during the lectures. The lectures will include links to papers, videos and books to aid self-directed study. The seminar will support the students in developing skills for analysing research papers. The practicals enable the students to navigate online resources and synthesise and apply the knowledge gained.

Assessment Methods

Please note that module leaders are reviewing the module teaching and assessment methods for Semester 2 modules, in light of the Covid-19 restrictions. There may also be a few further changes to Semester 1 modules. Final information will be available by the end of August 2020 in for Semester 1 modules and the end of October 2020 for Semester 2 modules.

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

Exams
Description Length Semester When Set Percentage Comment
Written Examination1802A80Online 24 hour take home paper. Open book 4 short answer questions (200-400 word limit each). All 4 questions to be answered
Other Assessment
Description Semester When Set Percentage Comment
Essay2M20In course assessment (1500 words)
Formative Assessments
Description Semester When Set Comment
Computer assessment2MIn course assessment (formative)
Assessment Rationale And Relationship

The examination provides evidence of knowledge and understanding of the topic. The Short Answer Questions tests application of knowledge, understanding and critical evaluation skills. The formative computer-based assessment tests understanding, ability to navigate online resources and to synthesise and apply the knowledge gained.

Reading Lists

Timetable