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Exome facts for kids

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The exome is a very important part of your genome. Think of your genome as the complete instruction book for building you. The exome is like the special chapters in that book that contain the direct recipes for making all the proteins your body needs.

Proteins are tiny workers that do almost everything in your body, from building muscles to fighting germs. The exome makes sure these protein recipes are correct. Scientists study the exome to understand and find the causes of many inherited diseases, which are conditions passed down through families.

What is the Exome?

Your DNA is made of long strands of information. These strands are divided into sections called genes. Not all parts of a gene are used to make proteins.

Exons and Introns

  • Exons are the parts of a gene that contain the instructions for making a protein. They are the "coding" parts.
  • Introns are the parts of a gene that are located between the exons. They do not contain instructions for making the final protein.

Imagine a recipe book where some pages have the actual cooking steps (exons) and other pages have extra notes or stories that aren't part of the main recipe (introns). Before the recipe is used, the extra notes (introns) are removed.

How the Exome Works

When your body wants to make a protein, it first makes a copy of a gene. This copy is called RNA. During a process called RNA splicing, the intron parts are cut out of the RNA copy. What's left are only the exon parts, which then contain the complete instructions for building the protein.

The exome is the collection of all these important exon parts from all your genes. Even though the exome is only about 1% of your entire genome, it contains about 85% of the known changes that cause diseases.

Why is the Exome Important?

Studying the exome helps scientists and doctors understand many health conditions.

Finding Disease Causes

  • Many genetic disorders, like cystic fibrosis or sickle cell anemia, are caused by small changes in the DNA code within the exons.
  • By looking closely at a person's exome, scientists can find these tiny changes. This helps them figure out what might be causing a disease.
  • It's like finding a typo in a recipe that makes the final dish turn out wrong.

Personalized Medicine

Understanding the exome can also lead to personalized medicine. This means doctors can choose treatments that are best for each person, based on their unique genetic information. For example, some medicines work better for people with certain exome changes.

How Do Scientists Study the Exome?

Scientists use a special method called exome sequencing to read the DNA code of the exome.

Exome Sequencing Process

1. Collecting a sample: A small sample of blood or saliva is taken from a person. 2. Extracting DNA: The DNA is carefully removed from the sample. 3. Targeting exons: Special tools are used to pick out only the exon parts of the DNA. 4. Reading the code: Machines then read the DNA code of these exons very quickly. 5. Analyzing data: Computer programs compare the person's exome code to a typical exome code. This helps them find any differences or changes that might be linked to a disease.

This technology has become much faster and cheaper over the years, making it a powerful tool for medical research and diagnosis.

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See also

Kids robot.svg In Spanish: Exoma para niños

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