MMB8036 : Neuromuscular diseases: bench to bedside

Semester 1 Credit Value: 20
ECTS Credits: 10.0


1.       To instruct students in the process of translating research from bench to bedside using the example of a group of disabling and rare diseases
2.       To explore the challenges and promise of the “post genomic era” as related to a specific group of diseases in terms of understanding the underlying cause of disease and the possible therapies which may be suggested as a result of this understanding
3.       To facilitate students’ development of an appreciation of the novel methods of gene and other advanced therapies as they apply to the neuromuscular system
4.       To develop students’ understanding of the role of cellular and animal models in moving therapies into practice and the design of preclinical experiments
5.       To explore the challenges in drug development and clinical trial designs in rare diseases.

Outline Of Syllabus

The module will cover:
•       How neuromuscular diseases impact on normal muscle structure and function, including normal muscle function and physiology, and the clinical and electrophysiological manifestations of muscle dysfunction across the neuromuscular system.

•       The molecular pathology of neuromuscular diseases, including the application of next generation sequencing and the development of gene and protein based diagnostics. Students will meet patients with neuromuscular diseases.

•       The assessment of therapeutic strategies through the preclinical modelling and assessment of neuromuscular diseases using cellular and animal systems, including critical appraisal of claims of therapeutic success in the preclinical setting.

•       The state of the art of novel therapeutic strategies for neuromuscular diseases including gene and cell based therapies; understanding the targets and use of biomarkers; genetic and stem cell-based therapy for neuromuscular diseases; applications of antisense oligonucleotide technology in neuromuscular diseases; other targets for therapy development including downstream targets and protein up regulation. Moving studies into patients; the challenges of trial design in rare diseases.

Teaching Methods

Teaching Activities
Category Activity Number Length Student Hours Comment
Guided Independent StudyAssessment preparation and completion1731:00173:00Includes 32h preparation for group exercise
Scheduled Learning And Teaching ActivitiesLecture171:0017:00Delivery of information to meet knowledge outcomes through a series of lectures given by specialists
Scheduled Learning And Teaching ActivitiesPractical11:001:00Application of next-generation sequencing data to neuromuscular diseases
Scheduled Learning And Teaching ActivitiesSmall group teaching24:008:00Experimental design and critical analysis of literature as preparation for assessed presentations
Scheduled Learning And Teaching ActivitiesSmall group teaching11:001:00Ethical debates and problems in rare disease translational research
Teaching Rationale And Relationship

The series of lectures will deliver the key information to meet knowledge outcomes, and guided reading will reinforce and develop this knowledge. Small group teaching sessions allow for interactive discussion and preparation around data analysis and experimental design. The practical session delivers hand-on practice in the application of next-generation sequencing data to clinical conditions.

Assessment Methods

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

Description Length Semester When Set Percentage Comment
Written Examination601A50One essay question from a choice of three
Other Assessment
Description Semester When Set Percentage Comment
Written exercise1M10MCQ test on the content of the assessed presentations
Prob solv exercises1M20Group exercise and presentation, as teams on specific disease groups,providing analysis of molecular pathology of a nominated topic
Prob solv exercises1M20Group exercise and presentation, as teams on specific disease groups,providing analysis of therapeutic options of a nominated topic
Assessment Rationale And Relationship

•       The written exam will test the knowledge of the students as related to all of the stated intended knowledge outcomes of the module.
•       The MCQ test will encourage students to access their own and other student presentations and revise them prior to the exam.
•       The group working and presentations will test individual and group working abilities as well as presentation skills, the ability to put together complex information related to neuromuscular diseases, iuncluding experimental desiugn and critical anaysis of related reseasrch, and the ability to communicate it effectively to their peers.

Reading Lists