We all know that some diseases are hereditary. But did you know that this is due to genetics? In this blog post, we’re going to talk about genetic diseases: what they are, how they’re caused, and what you can do if you or someone close to you has a genetic disease. Stay tuned for more!

What is a genetic disease?

A genetic disease is a condition caused by an abnormality in an individual’s DNA. These abnormalities can be passed from parent to child, which is why many genetic diseases run in families. In some cases, a mutation can occur spontaneously in an individual’s DNA. This is called a de novo mutation. There are many different types of genetic diseases, ranging from mild to severe.

Cystic fibrosis, sickle cell disease and Tay-Sachs disease are common examples. Treatment for genetic diseases often focuses on managing symptoms and preventing complications. In some cases, gene therapy can be used to correct the underlying DNA defect. Thanks to advances in medical technology, more and more people are living with genetic diseases. However, these diseases still have a significant impact on patients and their families.

Genetic disease Vs an inherited disease: what is the difference?

Some genetic mutations can be acquired, that is, they occur during a person’s lifetime due to environmental factors. For example, smoking can cause genetic mutations that lead to lung cancer, and UV rays can cause genetic mutations in the skin that lead to skin cancer.

But some genetic mutations are inherited from parents – an inherited condition. Not all people who inherit a genetic mutation get this disease, but they are at a higher risk of developing it. This is why you can also contract an inherited disease that your parents never had. They were just carriers.

For example, some cancers are hereditary. The researchers identified two key genes that help repair DNA to prevent breast cancer, which they named BRCA1 and BRCA2. Some women have an inherited, mutated BRCA2 gene. This can lead to tumor growth. According to the National Breast Cancer Foundation, more than 40% of women with a BRCA2 gene mutation develop breast cancer before the age of 70. (Note that not all breast cancers are hereditary).

Other examples of inherited diseases include sickle cell anemia, cystic fibrosis, and Down syndrome. Remember that in many cases a genetic mutation doesn’t always mean you’re ‘doomed’, but it does increase your risk. A healthy lifestyle and a safe environment – ​​low in air pollution and other toxins, for example – can help counter a genetic predisposition to certain diseases.

How is genetic disease treated?

For a group of genetic conditions called inborn errors of metabolism, which result from genetic changes that disrupt the production of specific enzymes. Treatments sometimes include dietary changes or replacement of the particular enzyme that is missing. Limiting certain substances in the diet can help prevent the buildup of potentially toxic substances that are normally broken down by the enzyme. In some cases, enzyme replacement therapy can help compensate for the lack of enzyme. These treatments are used to manage existing signs and symptoms and can help prevent future complications. Phenylketonuria (PKU) is an example of an inborn error of metabolism.

For other genetic diseases, treatment and management strategies are designed to improve the particular signs and symptoms associated with the disease. These approaches vary by disorder and are specific to an individual’s health needs. For example, a genetic disease associated with a heart defect can be treated with surgery to repair the defect or with a heart transplant. Diseases characterized by defective formation of blood cells, such as sickle cell disease, can sometimes be treated with a bone marrow transplant. Bone marrow transplantation can allow the formation of normal blood cells. Certainly, if performed early in life, it can help prevent episodes of pain and other future complications.

Can a genetic disease be cured?

There is no single answer to this question, since the possibility of curing a genetic disease depends on a number of factors. In some cases, it is possible to simply remove the faulty gene from an affected person’s cells. In other cases, more complex methods may be needed, such as RNA interference or gene therapy.

Ultimately, the key to curing a genetic disease lies in understanding the underlying causes of the condition. Once these are fully understood, it becomes possible to develop targeted treatments that attack the root cause of the disease. Although there is still a lot of work to be done in this area, the hope is that one day all genetic diseases will be curable.

* criptom strives to transmit health knowledge in a language accessible to all. In NO CASE, the information given can not replace the opinion of a health professional.