The genetic makeup of our cells is an amazing spectacle. They have the ability to reproduce and heal themselves without any effort on our part. However, as with any process, occasionally there are errors that occur and alter the entire complexion of our DNA. While these changes typically don’t lead to serious problems, occasionally they can create disease. So here’s a look at what causes some human genetic disorders.
On the most basic level, genes are simply sections of DNA that determine human characteristics—such as height, eye and hair color, etc. An individual gene can have an effect on one of these characteristics, or can be combined with one or more other genes to create something entirely different. Genes can number up to 30,000 per cell, so the combinations and outcomes can seemingly go on forever. These genetic codes are passed down from generation to generation, but over time, they can develop mutations and cause the entire DNA sequence to undergo a change. This is where genetic disorders are created.
These mutations can develop in a person in two different ways. One is when they inherit these alterations from their parents. But wouldn’t the parents also have the disorder? That may be the case, but there is something called a recessive gene, which is a part of the genetic makeup but lays dormant due to a dominant gene. People who have a recessive genetic disorder won’t display any symptoms and are referred to as carriers. If a carrier has a child with another carrier, then the child is at an increased risk of being afflicted by the disorder. As a result, it is not unusual for two perfectly healthy adults to create a child who suffers from a genetic disorder. Commonly inherited genetic disorders include sickle cell anemia and Huntington’s disease. It is suspected that, on average, an individual person can carry anywhere from 5 to 10 diseased genes in their cells, whether they are dominant or recessive.
Genetic disorders can also develop throughout a person’s life. Typically, these are caused by exposure to a harmful substance, such as radiation or cigarette smoke. Diseases commonly associated with these environmental exposures include lung cancer, melanoma, and neurofibromatosis.
While the medical community has not yet developed a surefire method to prevent and heal genetic disorders, they are in the process. Scientific efforts such as The Human Genome Project are looking at finding ways to feed healthy, dominant genes to cells that may be susceptible to mutation with the hope that the good gene will override any disorders that may be present. While the research is promising, we are still many years away from a fully approved system of gene therapy.
If you are worried about whether you might be carrying some type of genetic disorder, it is possible to have genetic testing done. The simple test involves taking a sample of someone’s blood, skin, or any other DNA-containing substance and looking for indications of genetic disorders. This will also help to determine what risk your child may be at for disease.