How genetics can help improve the quality of your life
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 […]
Congenital heart disease is the most common malformation at birth, but what role do genetics play? Are all cases the same? In this blog we will explain congenital heart disease, its causes and detection methods. What are congenital heart diseases? Congenital heart disease (CHD) is defined as any malformation in the structure of the heart […]
Rare diseases present a unique challenge due to their low prevalence and the complexity of their diagnosis. To improve the quality of life of patients with rare diseases and facilitate the development of targeted therapies, early diagnosis is key. For this reason, genetic tools have become an essential resource for the diagnosis of these pathologies, […]
Diabetes is a disease with a high incidence in today’s society. In Spain, for example, it affects 14% of the population. One of the most common doubts about this pathology is whether it can be transmitted from parents to children. Therefore, in this article we want to clarify whether diabetes is hereditary or not, explaining […]
Genetics has become a crucial tool in modern medicine. Its application opens up new opportunities to better understand diseases and offer personalized medical management. In this context, genome and exome studies have revolutionized the way an individual’s genetic information is analyzed and interpreted. In this article, we explore the differences between these two types of […]