During their lifetime, 1 out of every 3 people will suffer from some type of cancer. Of the total number of cases, between 5 and 10 percent are hereditary. Nowadays, people who suspect that there is a genetic alteration linked to cancer in their family can undergo genetic testing and, if so, take specific follow-up […]

At birth, newborn screening is one of the first medical evaluations performed to detect the presence of different types of diseases, including metabolic diseases in newborns. Although these diseases are not very common, identifying them is really important because it can prevent the onset of serious symptoms, which has a positive impact on the child’s […]

The immune system is a versatile defense system involving a variety of cells and mechanisms. From physical barriers such as the skin to phagocytic cells such as macrophages, each component plays a crucial role in protecting against infection. However, when any of these mechanisms fail, as in the case of primary immunodeficiencies, the body is […]

Breast cancer is the most commonly diagnosed cancer and one of the leading causes of mortality in women worldwide, with a high incidence in both Europe and Latin America. There is extensive scientific evidence about the impact of genetics on the risk of developing this type of cancer. Mutations in the BRCA1 and BRCA2 genes […]

Pharmacogenomics or pharmacogenetics is the discipline that studies the influence of genes on individual response to drug treatment. This information makes it possible to understand why some drugs work more effectively in some people, while in others they may cause serious side effects or simply not be effective. The goal of pharmacogenomics is to identify […]

There is still much to be known about the processes involved in aging. External factors such as smoking, stress or poor diet can accelerate aging, however, there are also endogenous processes that play an important role, among which telomere shortening has become one of the most studied factors. What are telomeres? Telomeres are the regions […]

Sudden Cardiac Death is caused by a sudden cessation of cardiac activity, which can occur in people with or without previous cardiovascular disease. This cessation of activity is usually caused by a disturbance in the electrical activity of the heart in the form of arrhythmia or asystole that interrupts blood flow to the brain and […]

The Human Genome Project has enabled the development of important advances in the area of genetics. One of the most relevant milestones was the discovery that, of a person’s total genetic information, only 1 to 2% is responsible for coding for protein synthesis. Since the remaining 98% does not contain coding information, it has long […]

Recent advances in the development of large-scale genomic sequencing now allow its application in neonatal genetic screening. This means that, from the moment of birth, it is possible to detect the risk of developing genetic diseases, thanks to the identification of variants in the DNA of the newborn associated with monogenic diseases. What is newborn […]

The National Society of Genetic Counselors of America (NSGC) defines genetic counseling as the “process of helping individuals understand and adapt to the medical, psychological and familial implications of genetic contribution to disease”. During this process, the professional will seek to interpret in depth the most relevant genetic traits and convey the information in a […]

Cystic fibrosis (CF) is the most common severe recessive genetic disease in the Caucasian population, affecting about 1 in 4,500 people. The reason it is so prevalent is that one in 25 people is an asymptomatic carrier of the disease; this carrier rate is very high indeed. CF affects several organs of the body, so […]

DNA, DeoxyriboNucleic Acid (DNA) is a complex molecule found in every cell of our body, containing the instructions necessary to create and maintain life. It is mainly made up of four chemical substances: adenine (A), thymine (T), guanine (G) and cytosine (C), which are joined in a very specific way: A with T, C with […]

When a couple is trying to conceive, gestational losses are a problem that can be a one-time occurrence or can be repeated in successive pregnancies. This situation creates uncertainty for both parents and health professionals, who in many cases are looking for answers so that they can take action if necessary. Unfortunately, about 25% of […]

Have you ever wondered why some people who eat a diet rich in fat and carbohydrates never put on weight? Well, the answer seems to lie in our genes and how they interact with environmental factors such as food. The foods we eat give complex metabolic signals, and these are processed in our bodies according […]

Prostate cancer is one of the most common cancers affecting men worldwide. Each year, Prostate Cancer Day provides us with an opportunity to reflect on the importance of early detection and the innovations available that allow for more effective diagnosis of this pathology. What is Prostate Cancer? The prostate is a gland exclusive to males, […]