Your life starts from your genes. Also from this factor, it is possible to have health problems or conditions in development. All this is due to genetic problems. There are genetic diseases that are present from birth, while others take time to develop and arise later in life.
At Essential Medical Clinic you will find information and details to deal with and prevent yourself from these genetic disorders. Take care of yourself or someone who may have them.
What are these genes?
The cells of the body have a nucleus in the center. Thus, there are 46 chromosomes in these nuclei.
What a baby inherits from her parents is stored on these chromosomes. All this is passed down from father to son in each generation.
Everything is made up of RNA (deoxyribose nucleic acid), a chemical compound found in chromosomes.
Also, DNA consists of genes, which are these little sections.
The human body contains more than 20,000 genes.
What impact do genes have on your body and your life?
Your being is defined by your genes. This information influences your life from your conception and all your growth and development as a human being. For this reason, your appearance is one way and not another. The color of your eyes, your hair, and your skin are due to your genetics.
But when you’re born your genes don’t turn off. In fact, in addition to influencing your personality, they also influence the way you think about the world.
Throughout your life, they will affect you in different ways and to different degrees of importance.
As a result, you use the proteins from the cells to direct production to the body. Proteins are necessary for growth, digestion, and all brain functions.
There are genes that can protect you against cancer, while others will allow this disease to spread. It all depends on this ultra-personalized code that your body possesses.
However, there are several factors that will affect the functioning of your genes, such as your lifestyle and the environment where you grow up.
Epigenetics focuses on this matter.
How do genetic diseases work?
A genetic disorder that is inherited is caused by an error in a gene or chromosome.
It is a kind of genetic mutation. When there is a problem with one gene, it is a problem with the whole gene.
Mutations in genes do not necessarily have to cause visible or irremediable problems. However, there are genetic mutations that do cause problems:
- Cystic fibrosis
- Huntington’s disease
- Hemophilia
- Cancer
Chromosome problems are likely to cause obvious symptoms. There are those who are missing chromosomes, those who have extra chromosomes, and those who have broken chromosomes or some type of chromosomal abnormality.
There are many chromosomal disorders, the most common are Down syndrome, Turner syndrome, and Klinefelter syndrome.
What causes a genetic disorder?
In most cases, these disorders are the result of a random event. It can be part of the process toward a new life. In extraneous circumstances, genes and chromosomes often change.
Obviously, there are transmition of disorders from parents to children. Children may experience diseases, problems, and complications if their parents have damaged genes or chromosomes. Or someone in your family.
A person’s DNA can change and cause other changes. So, for example, radiation from the sun can damage DNA in a way that stimulates the growth of skin cancer.
Is it always the fault of genetics to develop such a disorder?
The cause of many disorders can be inherited, but there are also many that are not.
There are also some conditions that just happen. This happens when a piece of genetic material has been damaged during the transmission of a gene from one parent to another.
This could lead to the baby having a genetic disease that neither parent has. Spontaneous mutation refers to damage caused to the gene by mere chance of damage.
What are the chances of a baby developing a genetic disorder?
If she has parents with genetic diseases or damaged genes, there is a higher chance. However, the presence of some genetic conditions can be observed at birth.
As well as there are conditions that appear in children, adolescents and adults. Carrying out a healthy pregnancy can help make the chances lower and less harmful to the baby.
How to diagnose genetic diseases?
Genetic tests are available for some disorders.
However, the affected person has to contemplate the effect of such genetic tests on other members of the family. Could this test affect your employment conditions or insurance eligibility? Check these factors before undergoing these tests.
You can start with a genetic counselor or your family doctor, they could give you a good guide to consider such tests, according to your case.
It is the responsibility of a genetic counselor to help families talk about these conditions. You can address:
- Availability of tests
- Benefits and risks
- Privacy and confidentiality
- Job and health insurance changes
- In most cases, other geneticists collaborate to make these decisions.
There are online tests or without the involvement of a medical professional. We recommend that people be cautious about it and do not take it as the last word either. They should always go to a doctor to get a 100% sure diagnosis.
Help and support against genetic diseases
You should consult with your genetic counselor or your doctor if you want to detect a genetic disorder in your family. If you are in time, you could prevent these genetic diseases from affecting you in any way.
Support groups are available for people with genetic conditions in their families. Some organizations meet in person and others operate online or over the phone. Look for them according to the condition and your availability.
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