Stephen J. Schueler, M.D.

Overview Conditions Underlying Cause Genetics

Genetic Disease Overview

What is a genetic disease?
A genetic disease is a condition that is caused by an abnormality in the genes or chromosomes. Chromosomes contain thousands of genes. Genes act as codes, or templates, that determine the structure of the body's essential building blocks, such as enzymes, proteins, and hormones. An abnormality in any one chromosome, or a single gene, can result in disease. Tiny abnormalities in a single gene (or collection of genes) can cause an illness, or increase our risk for a certain disease. These abnormalities are referred to as mutations.

What are the symptoms of a genetic disease?
Symptoms depend on the underlying genetic disorder.

How does the doctor treat a genetic disease?
Genetic disorders cannot be cured. Medications and surgery may be offered to control symptoms and address complications.

Continue to Genetic Disease Conditions

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