Assessment: a 2500-word essay about a chosen genetic disease. The essay should address the following points: Clinical features: – background to the condition – type of inheritance etc Genetic basis: – Gene (s) involved, identification and characterization, types of mutations present, How does knowledge of the gene and its function (if known) relate to the disease, does it explain The symptoms and phenotypes associated with it? – Diagnosis, Genetic testing – Clinical management – Potential treatments, drug development based on its molecular genetics, gene therapy, use of stem cells etc. ethical and social aspects related to diagnosis and treatments
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