The human body is an extremely resilient, complex and mysterious marvel of nature. Fortunately, advances in science have allowed us to map the majority of the human genome. By understanding how genes are expressed, we can prevent certain diseases from developing. There are thousands of different types of genetically inherited diseases that all have their own causes and symptoms.
This blog post looks at the human genome, the 3 main types of genetically inherited diseases, and how you can protect your body against them!
1. What Is The Human Genome?
The human genome is a relatively new discovery that gives us more information on the genes that we’ve inherited from past generations. Sequencing DNA has been in the works since the 1980s, but it wasn’t until 2001 that the majority of the human genome had been sequenced.
Information from the human genome is used to find answers in forensics, biomedical science, and other scientific disciplines. The expectation is to eventually understand the human genome well enough to develop advances in the diagnosis and treatment of diseases.
The majority of genetically inherited diseases are the result of a mutation in one gene. Scientists are still learning how genes influence each other’s expression and how environmental factors contribute to gene expression.
2. Chromosomal Abnormalities
The regular human chromosome contains 23 pairs of chromosomes for a total of 46 chromosomes in each cell. Abnormalities arise when there is an extra chromosome or a missing chromosome. Down’s syndrome, Turner syndrome, and Klinefelter syndrome are examples of common chromosomal abnormalities. Most abnormalities occur while the child is still an egg or sperm cell. Because these abnormalities occur at the cellular level, they are present in every cell in the body which creates a risk of transmitting the condition to future generations.
3. Single Gene Disorders
There are over 6000 human diseases that are caused by single-gene defects. Conditions such as Huntington’s disease, Marfan syndrome, Sickle cell anemia, and cystic fibrosis are the result of a single gene mutation from either one or both parents.
Conditions such as Huntington’s disease are autosomal dominant disorders which means even if only one parent carries the gene, there’s still a 50% chance it’s expressed in the child. With autosomal recessive conditions like sickle cell anemia, usually, both parents are carriers of the trait. What this means is the child would have a 50% chance of being a carrier like their parent, 25% chance of having the disease, and a 25% chance of not being a carrier and not having the disease.
Teratogenic conditions arise from infections and pollutants to an embryo. 4%-5% of all birth defects are caused by exposure to teratogens. Teratogens can come from cigarette smoke and drugs such as alcohol. Since the mother and child share blood supply, toxicities in the mother’s blood can be passed on to the baby.
Teratogens can also come from certain prescription medicines and contradictions between multiple medications. Drugs in the tranquilizer family, Warafin and anti-epileptic drugs are all associated with abnormalities in newborn babies. It’s important to avoid teratogenic compound where possible to protect your child’s central nervous system.
5. Multifactorial Problems
Certain genetically inherited diseases have complex causes. Ailments such as diabetes, obesity, and heart disease have many complicated causes when they are passed down genetically causing them to be known as multifactorial disorders.
Multifactorial disorders are usually a result of the effects of multiple genes, combined with lifestyle and environmental factors. These types of disorders do not have a clear-cut pattern of inheritance which can make it difficult to determine the risk of passing the condition down to the next generation. Researchers continue to look for specific factors that cause multifactorial disorders.
6. Testing For Risks
Fortunately, thanks to advancements in science, it’s possible to test your chances of passing on genetically inherited diseases. In addition to getting tested yourself, learning about your family’s health history and sharing the information with your doctor can also be quite helpful. Knowing about your family’s genetic will help you avoid doctors that take a “one-size-fits-all” approach to medicine.
Having this information can alert you to underlying conditions as well as allergies you may not have known about. As genetic research continues to progress, scientists are using the information to figure out how people will respond to certain medications without actually having to give it to them.
7. Improving Your Personal Gene Expression
Believe it or not, there are things you can do to improve your personal gene expression. If you’re considering starting a family, it’s important to get your body in the best condition possible. Both males and females should avoid teratogens, follow a healthy diet and get regular exercise. As previously mentioned, smoking tobacco and drinking alcohol can cause problems at the cellular level in your sperms or eggs. Committing to leading a healthy lifestyle is important if you’re preparing to have a child.