1. Explore

What Are Genetic Disorders?

Genes are like instruction manuals inside every cell of our body. They tell cells how to build proteins — molecules that help us grow, stay healthy, and fight disease (Wallis, 2018). Genes are made of DNA, and their instructions are written in a specific order using four letters: A, T, C, and G.

Sometimes a small change happens in DNA. This change is called a mutation. A mutation can affect how a protein is made or stop the protein from working correctly. When a gene does not function as it should, it can lead to a genetic disorder (National Human Genome Research Institute [NHGRI], 2024).

Mutations can be inherited from one or both parents, or they can happen spontaneously. Some mutations have no effect, but others interfere with normal body processes. In some cases, even a small change in DNA can cause a serious disease, depending on the role of the affected gene (Wallis, 2018).

^{Figure 1. A mutation in DNA can change a protein and lead to disease (generated by AI).}