The newborn screening

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 […]

Breast and ovarian cancer genetic diagnosis

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, why does it occur?

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 […]

Genetic diagnosis in adulthood

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 […]

QF-PCR: what is it and what is it used for in prenatal diagnosis?

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 and the role of genetics

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 […]

Genetic tools for the diagnosis of rare diseases

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, […]

Is diabetes hereditary?

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 […]

Exome vs. genome: which type of test to choose?

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 […]

Genetics of hereditary cancer

Between 5-10% of all cancer cases are related to genetic alterations that are inherited, i.e. passed down through families. Having an inherited genetic change does not always mean that one is irrevocably destined to get cancer, but rather that there is an increased risk of developing a certain type or types of cancer. New genes […]

Rare diseases, for greater visibility

rare disease

Rare diseases are more common than we can imagine and a large number of people are affected by this type of diseases globally. In this article, we explain some common characteristics of this type of diseases and the importance of diagnosing them appropriately. What are rare diseases?   Rare diseases can be defined as those […]

Difference between genetic and hereditary diseases

When we discuss genetic diseases or hereditary conditions, there is often confusion between these terms. Ultimately, both “genetic” and “hereditary” refer to our DNA and our genetic make-up. However, we need to make the difference between genetic and hereditary, as the two terms are not necessarily interchangeable. While both genetic and hereditary diseases are determined […]

What does it mean to be a carrier of a genetic disease?

Being a carrier of a genetic disease means that you have a variant related to a disease within your genetic material. This variant does not cause the disease and, generally, does not cause any symptoms, so why is it important to know if you are a carrier of a disease? In this article, we explain […]

What is the Polygenic Risk Score (PRS)?

Common diseases, such as cardiovascular disease or diabetes, are complex. This means that their onset depends as much on environmental factors as on diverse genetic factors. Establishing the genetic component associated with these diseases has been challenging. However, with a new approach call Polygenic Risk Score (PRS), now it is possible to detect a greater […]

7 very common skin diseases and their relationship with genetics

Some of the most common skin diseases are caused by infections, and others are the result of genetic factors combined with environmental factors. In this article, we bring you some examples of skin diseases caused by different factors, describing their symptoms, treatment and how to prevent them.  Skin and dermatology To learn  more about the characteristics […]

Medication allergies, why do they occur?

Medication allergies are an adverse reaction of the immune system caused by taking a specific drug, and sometimes this reaction can be serious. Although any drug can cause an allergy, some do so more frequently than others. In this post, we provide you with more information about allergies to medication and we give you insight about […]

DNA extracted from blood and other sources: how is it used in genetics?

Extracting DNA from blood sounds like a forensic practice we would see on TV shows, but what is its utility? While blood is one of the most commonly used samples to extract DNA, there are other sources from which DNA can be extracted. What is DNA? To begin with, let’s cover what DNA is and […]

Autism Spectrum Disorder: What are the main characteristics?

Autism, or autism spectrum disorder (ASD), refers not only to a single disease but to a wide range of conditions. Autistic people may present challenges with social, communication and behavioural skills. Whilst ASD can be very different for each person, there are some common characteristics that we can identify at different stages in life. In […]

Human Genome Project: What it is and how it paved the way for personalized medicine

During the past century, the scientific community has made significant discoveries which played a key role in deciphering the human genome: chromosomes were discovered to be the basis of inheritance; the DNA double helix was seen for the first time; the biological mechanism by which the cells read the information contained in the genes was […]

What Is Huntington’s Disease?

Huntington’s disease (HD) is an inherited condition affecting the brain function in a progressive manner. This means that it can be transmitted from parents to children and that its onset may start quite unobserved, with slow and steady development affecting the patient.  Most commonly, Huntington’s symptoms appear in adults aged 35-44. If it develops before […]