1. Explore - Genetic Diseases: Challenges and Solutions

1.1 What Are Genetic Diseases?

A genetic disease is a condition caused by changes in DNA, either through mutations in individual genes or abnormalities in chromosomes. Unlike infectious diseases, genetic disorders are not caused by bacteria or viruses; instead, they are inherited from parents or arise spontaneously during cell division or early development. It is estimated that genetic diseases affect approximately 1 in 25 people worldwide.

Key characteristics of genetic diseases include:

  • They are caused by changes in the DNA sequence (such as point mutations, insertions, or deletions) or by changes in chromosome number or structure.
  • They can be monogenic, involving a single gene, or polygenic, involving multiple genes and environmental factors.
  • Their severity varies widely, from mild conditions such as color blindness to life-threatening disorders.

A well-known example is sickle cell anemia, where a single nucleotide change in the HBB gene alters the structure of hemoglobin, causing red blood cells to become rigid and sickle-shaped.