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‘Single-gene’ vs. Complex diseases
Single-gene (‘Mendelian’)
• Caused by single, rare, variants that carry a very high risk
• Disease primarily identified in families
• Examples: Cystic fibrosis; Huntingdon’s disease
• Typical study design: Family-based Studies
‘Single-gene’ vs. Complex diseases
Single-gene (‘Mendelian’)
• Caused by single, rare, variants that carry a very high risk
• Disease primarily identified in families
• Examples: Cystic fibrosis; Huntingdon’s disease
• Typical study design: Family-based Studies
Complex
• Caused by multiple genetic variants + environmental factors, each
carrying small increases in risk
• Disease observed in families as well as sporadic cases
• Examples: Cancers, CVD, Type I/II Diabetes, Endometriosis.......
• Typical study design: Genome-wide Association Studies (GWAS)
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