A comprehensive overview of the basics of genetics and genomics, exploring how gene variations, mutations, and chromosomal abnormalities can lead to a wide range of diseases.
The text covers fundamental concepts like DNA structure, gene expression, and inheritance patterns, and it delves into specific disorders such as familial hypercholesterolemia, cystic fibrosis, Huntington’s disease, Down syndrome, and many others. Diagnostic and therapeutic approaches, including genetic testing, prenatal diagnosis, and gene therapy, highlighting ethical considerations surrounding these technologies.

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