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Learning Objectives
• Why to study effect of genes on disease
• Types of genetic variation: Germline (Heritable) vs. Somatic
• Heritability of endometriosis
• Types of heritable conditions: Mendelian vs. Complex
• Endometriosis as a complex condition
• Unravelling common genetic variants underlying endometriosis: GWAS
• Somatic mutation in endometriosis
Why study the effect of genes on disease risk?
• Uncover biological pathways involved in causing disease: provide potential targets for drug and biomarker development;
• Identify disease subtypes for better targeted drug and biomarker development (stratified medicine)
• Provide information on interacting modifiable ‘environmental’ factors or agents that could reduce disease risk or prevent it from occurring
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