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2019/20 Taught Postgraduate Module Catalogue

MEDM5151M Big Data and Rare and Common Disorders

15 creditsClass Size: 60

Module manager: Dr Carmel Toomes

Taught: Semester 1 (Sep to Jan) View Timetable

Year running 2019/20

Pre-requisite qualifications

As per programme specification

This module is not approved as an Elective

Module summary

This module will provide insight into the way big data is impacting our understanding of human disease and the development of therapies. It will focus on a range of disorders spanning from rare Mendelian disease to common disorders of complex aetiology. The content will be delivered by focusing on exemplar cases and will take the students on the journey from defining the medical problem and understanding the disease mechanisms, all the way to the development of treatments and therapies. Disorders covered include cystic fibrosis, muscular dystrophy, inherited retinal disease, cardiovascular disease, diabetes and age-related macular degeneration. Topics reviewed will include gene replacement therapy, pharmacogenetics, phenotype-genotype correlations, whole genome siRNA screens, patient datasets, whole genome sequencing, antisense oligonucleotide (AON)-based therapies and CRISPR-mediated gene editing. At the end of this course, students should have a thorough understanding of the exciting way big data is influencing medical research and practise today, and what opportunities it offers for the future, but they will also have an appreciation of the problems and limitations that it brings.


The objectives of this module are to demonstrate how the latest technologies and datasets are impacting on biomedical and clinical research, and leading to precision therapies, through the use of real-life examples ranging from rare Mendelian diseases to common complex conditions.

Learning outcomes
By the end of this module students will be able to:
1. Describe the molecular basis of a range of Mendelian and complex human disorders.
2. Demonstrate advanced knowledge of how different types of large data are utilised to research rare and complex disease including whole exome and genome sequencing, genome-wide association studies, whole genome linkage/autozygosity mapping, transcriptomics, patient datasets and whole genome siRNA data.
3. Identify and describe an understanding of the benefits and limitations of different datasets, and their ethical implications.
4. Explain and analyse a range of big data outputs.
5. Describe the theoretical basis and application of different forms of molecular therapies including gene replacement therapy, antisense oligonucleotide (AON)-based therapies, CRISPR-mediated gene editing and genotype-guided drugs.
6. Critically appraise recent scientific literature in the field of human genetics, functional genomics and precision medicine.

Skills outcomes
Knowledge and understanding of
- Mendelian and complex human disorders
- molecular genetic techniques and datasets
- molecular therapeutics
- ethical issues in inherited disease


The course content will be delivered in 15 lectures, each focusing on an exemplar condition such as age-related macular degeneration, cystic fibrosis, malignant hyperthermia, inherited retinal disease, diabetes, obesity, ciliopathies, Duchenne muscular dystrophy, Rheumatoid arthritis, Alzheimer’s, Schizophrenia, Giant cell arteritis and Asthma. The lectures will cover topics including whole exome and genome sequencing, genome-wide association studies, whole genome linkage/autozygosity mapping, transcriptomics, patient datasets, whole genome siRNA data, pharmacogenetics, 100,000 genomes, variants of unknown clinical significance, secondary and incidental findings, informed consent, gene replacement therapy, antisense oligonucleotide (AON)-based therapies, CRISPR-mediated gene editing and genotype-guided drugs.

Practical classes will provide the students with hands on experience of topics introduced within the lectures. The students will learn how to handle and interpret datasets and learn related skills such as designing CRISPR guides or AON probes.

Tutorials will take the form of journal clubs to give students a breadth of knowledge in the field and to teach them critical analysis skills. Students will be given relevant papers and asked to present 1 of these papers as part of a group presentation to start the journal clubs e.g. for 1 journal club, 3 papers may be supplied to all students, and the students, divided into 3 groups, will be responsible for presenting 1 of the papers.

A 30-minute seminar will teach the students how to prepare and present a poster. Additional poster presentation sessions will allow the students to present their completed posters to their peers.

Teaching methods

Delivery typeNumberLength hoursStudent hours
Poster session23.006.00
Private study hours115.00
Total Contact hours35.00
Total hours (100hr per 10 credits)150.00

Private study

Each student will be expected to read and critically appraise published papers for discussion in the tutorials (~ 2.5 hours per tutorial – 7.5 hours total).

Each student will carry out extensive reading and analysis for their assessed practical write ups (3 x 15 hours – 45 hours total).
Students will need to acquire in-depth knowledge for the content of their posters and prepare the posters (2 x 20 hours – 40 hours total).

1.5 hour reading per lecture = 22.5 hours

Opportunities for Formative Feedback

Students will be required to prepare two posters based on research papers. The first poster will be for formative feedback only.

Students will be encouraged to question and participate during the lectures and tutorials, allowing informal monitoring of their level and progress.

During the practical sessions, the students will be engaging with the academic staff and demonstrators allowing formative feedback opportunities and informal monitoring on progress.

Methods of assessment

Assessment typeNotes% of formal assessment
Poster PresentationFormative0.00
Poster Presentationaccompanied by 10min verbal presentation40.00
Practical ReportThe students will be required to submit a formal extended report for each of their three practical sessions. These will include the results of their practical’s and short questions/tasks to test their understanding on an individual basis.60.00
Total percentage (Assessment Coursework)100.00

When set and when due for the 3 practical reports that will each be worth 20% Set 1/1 - Due 1/4 Set 1/4 - Due 1/7 Set 1/7 - Due 1/10 There is compensation allowed between the assessments.

Reading list

There is no reading list for this module

Last updated: 30/04/2019


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