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health14h ago
Inherited diseases don't work like we thought they did
- New population studies show many so-called disease-causing gene variants appear in healthy people as well.
- Researchers use large biobanks to show disease risk is often not 100% by a single variant but influenced by other genes and environment.
- Findings suggest embryo screening and gene therapies should consider the broader genetic context, not just single variants.
- Huntington's disease example shows risk can be dose-dependent and affected by nearby genetic variants.
- Researchers emphasize that the general population carries variants thought to cause disease yet may not express it.
- The study highlights the risk of ascertainment bias when only patient samples are considered.
- Population data from biobanks help quantify how often variants actually lead to disease.
- The article notes that gene therapy and embryo selection must account for broader genetic interactions.
- Clinicians are urged to improve genetic counseling by incorporating population-level risk insights.
- Experts say population data could refine how gene therapies are targeted and measured for effectiveness.
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