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What are Genetic Diseases?

The human body is composed of trillions of cells that hold chromosomes, which are large, thread-like structures that contains the building blocks of heredity-- genes. Genes are inherited from both parents, and play a significant role in a wide range of human characteristics, from the color of one’s eyes to the way one looks with a smile. Further inside the genes is the DNA or deoxyribonucleic acid, known as the blueprint of life. DNA has a huge set of instructions in making proteins. As a whole, the genetic makeup of the body is called a genome. 

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Sometimes, there is a change or a mutation in an individual’s genetic makeup. A mutation alters the instructions in making proteins. Mutations can either be inherited from parents or acquired in a lifetime. They are usually the common cause of genetic disorders.

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Types of Genetic Diseases

Genetic disorders can be categorized according to their causes: single-gene, chromosomal, and complex.

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  • Single-gene disorders are a result when only a single gene mutates.

  • Chromosomal disorders happen when a chromosome-- or a part of it-- is missing or doubled, even tripled.

  • Complex multifactorial disorders arise from two or more gene mutations. A combination of environmental and genetic factors often interact in these disorders.

For more information, check out these videos below:

List of Featured Diseases

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