Question

What classifies a disease as a genetic disease? Provide an example of a genetic disease and explain how it meets the requirements to be labeled a genetic disease.

Answer 1

A genetic disease is any disease that is caused by an abnormality in an individual's genome, the person's entire genetic makeup. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations can occur either randomly or due to some environmental exposure.

Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person. But in most cases it is mild to moderate.

example: Down syndrome is a lifelong condition. But with care and support, children who have Down syndrome can grow up to have healthy, happy, productive lives.

What causes Down syndrome?

Down syndrome is caused by a problem with a baby's chromosomes. Normally, a person has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.