How genetics can help improve the quality of your life
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 […]
While it is true that summer is when radiation is most intense, the face is also exposed to sunlight during spring, autumn and winter, which is why it is important to always protect it. Not doing so can have consequences for the health of your skin, as we are going to explain in this article. […]
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, […]
Genetics is a fundamental pillar of medicine, its study provides valuable information for both the prevention and diagnosis of diseases. Medical genetics is an area that presents complexity, in this blog we will try to explain certain basic concepts that allow to improve the understanding of this science and to initiate in its study. The […]
Newborn screening is one of the first tests performed on a newborn baby to detect whether he or she has certain health problems that may require specific care. The first test performed on a newborn, before newborn screening, is the Apgar test. It is carried out just one minute after the baby is born, and […]
Cancer is one of the pathologies with the greatest impact on the health of the population; in women, breast and ovarian cancer is the most prevalent. Genetic diagnosis of hereditary cases has become a key tool for both prevention and treatment of the pathology. A greater knowledge of the architecture of hereditary cancer together with […]
Drug allergy is an adverse reaction of the immune system caused by taking a certain drug, this reaction can sometimes be severe. Although any drug can cause allergy, some do it more frequently than others. In this post we provide you with more information about drug allergy and tell you which are the most allergenic […]
DNA contains all the instructions for the correct functioning of the organism, so it is logical to think that genetics plays a fundamental role in people’s health. As knowledge in genetics has advanced, the underlying causes and mechanisms of many diseases have been identified and, in some cases, this has made it possible to establish […]
Prenatal diagnosis is performed during pregnancy to determine if there is any alteration in the development of the foetus. Approximately 3% of live newborns have some type of chromosomal abnormality. In order to detect them prenatally, different techniques have been developed in recent years that have helped to improve diagnosis. QF-PCR, is a technique widely used […]