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Mutations in genes can lead to genetic disorders from "summary" of El gen / The Gene: An Intimate History by Siddhartha Mukherjee

Genes are the fundamental units of heredity, containing the instructions for building and maintaining an organism. They are composed of DNA, which serves as the blueprint for the body's development and function. However, mutations in genes can disrupt this process, leading to genetic disorders. These mutations can occur spontaneously or be inherited from one or both parents. They can affect a single gene or multiple genes, causing a wide range of genetic disorders with varying degrees of severity. Some mutations may have no noticeable effect, while others can result in serious health problems. Genetic disorders can manifest in different ways, depending on the specific gene or genes that are affected. They may affect physical characteristics, such as height or eye color, or lead to more serious conditions like cystic fibrosis or Huntington's disease. Some genetic disorders are present from birth, while others may develop later in life. Advances in genetics have enabled scientists to identify specific genes associated with particular disorders, allowing for more accurate diagnosis and potential treatments. Genetic testing can help determine an individual's risk of developing a genetic disorder, as well as guide treatment options.
  1. Mutations in genes can have profound effects on an individual's health and well-being. Understanding the role of genes in genetic disorders is crucial for developing effective strategies for prevention, diagnosis, and treatment. By unraveling the mysteries of the genetic code, scientists continue to make progress in the field of genetics and improve our understanding of how mutations can lead to genetic disorders.
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El gen / The Gene: An Intimate History

Siddhartha Mukherjee

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