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Understand the influence of genes on monogenic inherited diseases

05 Mar 2023
Comprende la influencia de los genes en las enfermedades hereditarias monogénicas

Monogenic hereditary diseases are those that are caused by the presence of a mutation in a specific gene. These mutations can be transmitted from parents to children and cause the development of various diseases.

In the case of recessive diseases, which are the most common, a person can carry a copy of the mutation without developing the disease. However, if your partner is also a carrier of the mutated gene, there is a 25% chance that your child will inherit two copies of the mutation and therefore develop the disease.

For this reason, it is essential to know if you are a carrier of any mutation related to this type of disease in order to apply the necessary preventive measures.

How are carrier tests performed?

There are various tests that allow detecting the presence of mutations related to monogenic hereditary diseases. These tests are performed on a blood sample or other biological sample, and genes are analyzed for specific mutations.

Carrier screening may be helpful for people who have a family history of inherited diseases or who belong to ethnic groups at higher risk of developing these diseases.

In some cases, these tests may also be recommended for couples who are planning to have children and want to know their risk of transmitting hereditary diseases to their offspring.

What diseases can be detected by carrier detection tests?

There are many monogenic inherited diseases for which carrier screening tests have been developed. Some of the most common are:

  • Cystic fibrosis: a disease that primarily affects the lungs and digestive system.

  • Sickle Cell Anemia: A disease that affects the red blood cells and can cause pain, infections, and other health problems.

  • Tay-Sachs disease: a disease that affects the nervous system and usually causes death in childhood.

  • Gaucher disease: a disease that affects the organs and can cause damage to the bones, liver, and spleen.

  • Niemann-Pick disease: a disease that affects fat metabolism and can cause liver, spleen, and brain damage.

It is important to note that carrier detection does not necessarily imply that a person will develop the disease, but only indicates that they carry a mutation that can be passed on to their offspring.

What preventive measures can be taken in case of being a carrier of a mutation?

In case of being a carrier of a mutation related to a monogenic hereditary disease, there are several preventive measures that can be useful to reduce the risk of the disease being transmitted to offspring.

One of the options is in vitro fertilization with preimplantation genetic diagnosis.

Diagnosis of monogenic hereditary diseases

The diagnosis of monogenic hereditary diseases can be complicated due to the great variety of genes involved and the diversity of clinical manifestations. However, thanks to the advancement of technology, there are various methods to carry out this diagnosis:

  • Genetic testing: The patient's DNA sequences are analyzed to identify specific mutations in disease-related genes.

  • Biochemical tests: The levels of certain proteins or enzymes in the body that may be related to the disease are measured.

  • Imaging studies: These are used to visualize structural abnormalities in the body that may be associated with disease.

It is important to highlight that, in many cases, early diagnosis of the disease can significantly improve prognosis and treatment.

Prevention and treatment of monogenic hereditary diseases

The prevention of monogenic hereditary diseases is a complex issue, since many of these diseases are recessive and, therefore, only manifest when both parents are carriers of the mutation.

However, in cases where there is a known high risk of transmission of an inherited disease, preventive measures can be taken such as:

  • Genetic counseling: A professional geneticist can advise on the risk of passing on an inherited disease and the options available to minimize that risk.

  • Prenatal diagnosis: A test can be performed to detect the presence of the mutation in the fetus during pregnancy.

  • Preimplantation diagnosis: a genetic test can be carried out on the embryos before implanting them in the uterus, to select those that do not present the mutation.

Regarding the treatment of monogenic hereditary diseases, this depends on each particular disease and may include measures such as:

  • Pharmacological treatments: Medications can be used to reduce the symptoms of the disease or to prevent complications.

  • Surgery: In some cases, surgical intervention may be necessary to correct structural abnormalities associated with the disease.

  • Gene therapy: this experimental technique seeks to correct the mutation responsible for the disease, replacing it with a healthy version of the gene.


Monogenic hereditary diseases are a group of genetic disorders that can affect anyone, regardless of age, gender or ethnic origin. Although many of these diseases are rare, their impact on the quality of life of those affected can be significant.

For this reason, it is essential to continue researching in the field of genetics and developing new therapies to combat these diseases. Likewise, it is important to raise awareness about the importance of early diagnosis and prevention, to improve the prognosis and quality of life of affected people and their families.


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