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MMB8030 : Genetic Medicine

  • Offered for Year: 2024/25
  • Module Leader(s): Dr Colin Miles
  • Lecturer: Dr Marta Bertoli, Prof. Sir John Burn, Dr Simon Ramsbottom, Professor Michela Guglieri, Professor David Elliott, Mr Gareth Breese, Dr Lorraine Cowley, Dr Mauro Santibanez Koref, Professor John Sayer, Professor Mary Herbert, Dr Michael Jackson
  • 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


The primary aims of the module are as follows:

1. to consolidate knowledge of genetic information processing and inheritance patterns of human genetic disease

2. to introduce the wide variety of mutational mechanisms underlying disease phenotypes, and the detection mechanisms used to identify them

3. to introduce high throughput mutation detection techniques and in silico representations of human genome data

4. to introduce the dynamics of clinical consultations and develop an understanding of ethical and confidentiality issues within this setting

Outline Of Syllabus

The module will consider:

•       information processing within the cell

•       Epidemiology of heritable disease and patterns of inheritance using clinical examples.

•       Chromosome analysis including antenatal diagnosis.

•       Molecular diagnostic techniques including next generation DNA sequencing and mutation scanning.

•       Genome browsers and gene specific PCR assay design

•       Unusual patterns of inheritance - Imprinting, Mosaicism and Mitochondrial disorders, Unstable repeat disorders.

•       Genomic Disorders and techniques for copy number detection.

•       Cancer Genetics: Hereditary vs. sporadic cancer.

•       Clinical Consultation skills - pedigree analysis, risk calculations and clinical ethics.

•       Gene therapy: principles and future prospects.

Teaching Methods

Teaching Activities
Category Activity Number Length Student Hours Comment
Scheduled Learning And Teaching ActivitiesLecture181:0018:00Present in person (PIP): Lectures
Guided Independent StudyAssessment preparation and completion301:0030:00Preparation for Group Exercise
Scheduled Learning And Teaching ActivitiesPractical12:002:00Present in person (PIP): Practical session 2: genome browsers
Scheduled Learning And Teaching ActivitiesPractical13:003:00Present in person (PIP): Practical session 1: genome browsers
Scheduled Learning And Teaching ActivitiesSmall group teaching14:004:00Present in person (PIP) : Case studies - presentations
Scheduled Learning And Teaching ActivitiesSmall group teaching21:002:00Present in person (PIP): Seminars
Guided Independent StudyIndependent study118:0018:00Additional Reading and Reflective Learning
Guided Independent StudyIndependent study651:0065:00Preparing notes from sessions and reading
Guided Independent StudyIndependent study581:0058:00Interpretation of genetic diagnoses and genetic counselling considerations prep and follow-up work
Teaching Rationale And Relationship

Interactive lectures will provide the students with basic knowledge, encourage them to explore further concepts and be the platform for private study. The seminars will introduce pedigree drawing and interpretation skills, together with an appreciation of the dynamics of clinical consultation and associated ethical issues, in a group format which mimics working practices. Practical sessions will familiarise the students with interpretation of laboratory data, including the tools currently used for analysis of sequencing and microarray data, and will foster their ability to interpret diagnostic tests and develop critical appraisal skills. In other practical sessions students will use genome browsers and design gene specific PCR assays.

Assessment Methods

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

Description Length Semester When Set Percentage Comment
Written Examination1201A70Onlinetakehome 24hr openbook paper 3 questions testing interpretation and understanding 2 compulsory & 1 from a choice of 3: 250word
Other Assessment
Description Semester When Set Percentage Comment
Written exercise1M30Written report outlining structure and molecular consequences of a hypothetical balanced translocation (1000 words)
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
Prob solv exercises1MGroup analysis of the potential clinical implications of novel chromosomal abnormalities are presented (30 mins per group)
Assessment Rationale And Relationship

The essay questions both in course and in the end of module take home paper will test the student’s knowledge base, comprehension and ability to discuss the subject critically.

The formative group presentation will test the students’ ability to use on-line databases to find and interpret clinical information generated by the latest technologies.

Reading Lists