MMB8036 : Neuromuscular diseases: bench to bedside
- Offered for Year: 2019/20
- Module Leader(s): Dr Michela Guglieri
- Lecturer: Dr Anna Mayhew, Professor Volker Straub, Dr Simon Woods, Dr John Bourke, Dr Ana Topf, Dr Tuomo Polvikoski, Dr Marta Bertoli, Dr Alison Blain, Dr Richard Charlton
- Visiting Lecturer: Dr Anna Sarkozy, Dr Teresinha Evangelista
- Owning School: FMS Graduate School
- Teaching Location: Newcastle City Campus
|Semester 1 Credit Value:||20|
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.
|Guided Independent Study||Assessment preparation and completion||173||1:00||173:00||Includes 32h preparation for group exercise|
|Scheduled Learning And Teaching Activities||Lecture||17||1:00||17:00||Delivery of information to meet knowledge outcomes through a series of lectures given by specialists|
|Scheduled Learning And Teaching Activities||Practical||1||1:00||1:00||Application of next-generation sequencing data to neuromuscular diseases|
|Scheduled Learning And Teaching Activities||Small group teaching||2||4:00||8:00||Experimental design and critical analysis of literature as preparation for assessed presentations|
|Scheduled Learning And Teaching Activities||Small group teaching||1||1:00||1:00||Ethical 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.
The format of resits will be determined by the Board of Examiners
|Written Examination||60||1||A||50||One essay question from a choice of three|
|Written exercise||1||M||10||MCQ test on the content of the assessed presentations|
|Prob solv exercises||1||M||20||Group exercise and presentation, as teams on specific disease groups,providing analysis of molecular pathology of a nominated topic|
|Prob solv exercises||1||M||20||Group 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.