BIOM30002

- brief overview of cystic fibrosis - experience of living with cystic fibrosis, a chronic and life-limiting condition - health and emotional impact

- discovery of the gene (CFTR) involved in causing cystin fibrosis - molecular basis of cystic fibrosis – the CFTR protein and its structure - the role of CFTR in epithelial cells - classes of CFTR gene mutations - common mutations and how they are tested

- inheritance and prevalence of cystic fibrosis - genotype-phenotype correlations - genetic and environmental modifiers of cystic fibrosis - screening for cystic fibrosis - newborn, carrier (cascade and population)

- Review: normal lung anatomy and development, normal lung physiology, lung function tests (spirometry) - Pulmonary complications of cystic fibrosis - pathology of the lungs - microbial colonisation of the lung in CF

Clinical features of CF: - sweat gland - pancreas - liver - gastro-intestinal - skeletal - genito-urinary - renal - ENT - Cardiovascular - Skin

- the role of physiotherapy - the role of antimicrobials - managing pancreatic insufficiency - future therapies: pharmacological, gene therapy

HIV-1 infection: virology, pathogenesis and treatment - epidemiology - virology: general, HIV entry - immunology

natural history of HIV diseas

- numbers of new HIV infections globally are decreasing but 33 million currently infected - HIV is a retrovirus which can integrate in the host genome and persist indefinitely - HIV uses both CD4 and chemokine receptors (CCR5 and CXCR4) to enter a cell - natural mutations in CCR5 can protect from infection and have an effect on disease progression - CD4 loss is the hallmark of HIV infection but HIV causes multiple other immunological abnormalities including immune activation - cART has

- parasite's resposne to the development of immunity to PfEMP1 - parasite switches to use different var genes (which encode PfEMPS1s) - ~ 60 copies in genome - clonal antigenic variation - results in recrudescence - parasite persistance - different P. falciparum lines have a complement of var genes that are more different than you expect, why?

Malaria - background to malaria: clinical features and treatment - immunity: targets and mediators - pathogenesis of disease - immunity and immune evasion - malaria in pregnancy as an example

neurodegeneration module - how would you do research on causes of neurodegeneration?

Molecular Pathogenesis of Alzeimer's disease I - general background on Alzheimer's disease - amyloid β peptide aggregation and its role in Alzheimer's disease pathogenesis - Tau microtubule protein and its role in Alzheimer's disease pathogenesis - contributing factors to alzheimer's disease - Oxidative stress - contributing factors to Alzheimer's disease pathogenesis - Biometals - contributing factors to Alzheimer's disease pathogenesis - Neuroinflammation

Alzheimer's II - neurotoxic mechanisms in Alzheimer's disease - approaches to understanding the molecular and cellular biology of Alzheimer's disease

Motor neuron disease 1. brief description of MND 2. symptoms of MND 3. Diagnosis 4. prognosis 5. treatments 6. causes 7. genetics 8. current research

Parkinson's Disease - protein aggregation can lead to gain of toxic function - multiple, and potentially distinct pathways can affect protein aggregation - multiple and potentially distinct cellular targets may lead to neurodegeneration - location of pathology informs about clinical symptoms