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Genetics in Disease

Two glass vials each containing a strand of DNA.
Credit: iStock

Some genetic diseases, like sickle cell anemia, are hereditary and present at birth. Others can be caused by spontaneous mutations, either arising from errors in DNA replication or exposure to environmental factors.


Increasing our understanding of the genetic basis of disease may help us to improve the diagnosis, treatment and therapy of genetic disorders. For example, advances in genetic analysis techniques can potentially cut the time to diagnosis and make a huge difference in the lives of patients and their families.


Download this listicle to explore the use of genetics in:

    • The diagnosis of rare pediatric diseases
    • Sickle cell anemia and cancer treatments 
    • Predicting potentially pathogenic mutations
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