Genes, Genetics and Genomics: Understanding What Makes You Who You Are

Has anyone ever told you that you have your mother’s eyes or that you look like your father’s side of the family? This is because certain physical traits are shared in families and are passed down in our genes. Genes are short sections of DNA that carry information passed down from parents to their children. This information provides the instructions that determine physical features such as eye color, hair color and height. Sometimes this information can cause diseases.

Your genome is your unique collection of genes. It’s responsible for what you look like — and it’s what provides every part of your body with the instructions needed to perform the functions that help you grow and live.

Imagine the genome as the body’s inner car engine. Each part of the engine is a gene.

Genomics is the study of a person’s collection of genes and how they work together. It’s like looking at how the parts of the engine work together to make the car drive.

Why Is This Important? 

What if the car engine had missing or extra parts or parts in the wrong location? What if the parts were put together in the wrong order? Changes like these can affect how the car runs.

The same thing can happen in the body’s inner car engine, the genome. A gene can be changed, added, missing or in the wrong place. These changes are called variants. Genome-based testing can help find variants that may be responsible for causing diseases or disorders. Finding variants allows treatment to be personalized based on a person’s unique genome and condition.

Changed, added or missing genes can cause diseases — but so can genes themselves. A single gene, passed down from parents to their children, can contain information that can cause diseases. Genetics is the study of how single-gene diseases are transmitted from parents to their children. It’s like examining how the car engine was built, studying what each part does and finding parts that can affect how the car runs.

These genetic disorders can be rare and very hard to diagnose. A “rare disease” is one that affects fewer than 200,000 people in the United States. To find more information about a medical condition and how to treat it, your doctor may order genetic testing.

Learn more about The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital is advancing genome-based testing for diagnosing and treating pediatric disease and making the results accessible and meaningful for patients and families.