Researchers from hospitals and research centres around the world have discovered a new rare neurodevelopmental disease. The disease is caused by a defect in the ESAM gene, which manifests as disruption of the blood-brain barrier. Affected individuals suffer from profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly and intracranial haemorrhage/brain calcifications.
Rare diseases pose a challenge for physicians. However, in recent years, two very important diagnostic support tools have taken hold: exome and genome analysis. These technologies make it possible to determine the cause in a considerable proportion (up to 40%) of undiagnosed patients, and more importantly, often with findings that allow therapeutic measures to be taken to tackle the disease.
What is OLITECH? OLITECH is a research and development project that represents the continuation of a collaboration between INAGEA (Institute for Agri-environmental Research and Water Management) and Genosalut (biotechnology company in the Balearic Islands). Molecular techniques for the early detection of pathogens will contribute to the control of plant diseases and allow a more rational use of conventional chemical agents
What is azoospermia? Doctors speak of azoospermia when no sperm are found in the semen. Men with azoospermia are infertile. However, those affected do not have to completely abandon their desire to become fathers. There are procedures that make pregnancy possible, such as hormone therapy or performing a testicular biopsy to extract spermatozoa that can be used for assisted reproduction.
What are aneuplodies? The cells of the human body contain 23 pairs of chromosomes (46 chromosomes in total). Half of these 46 chromosomes come from the mother and the other half from the father. Chromosomes contain our genetic material with all the information necessary for the correct development and functioning of the organism. The chromosome pairs 1 to 22 are
What is fetal DNA testing in maternal blood? Fetal DNA testing, also known as non-invasive prenatal testing, is used to clarify some genetic diseases of the foetus from maternal blood. In particular, these foetal DNA tests are used to analyse the most common trisomies and numerical alterations of the sex chromosomes. In some cases they also detect other chromosomal abnormalities
Sinergies and Genosalut offer a highly reliable test for the detection of the SARS-CoV2 coronavirus on surfaces.
High-reliability test for the detection of coronaviruses on surfaces In these times that encourage change and sometimes even reinvention, Sinergies and Genosalut, two Mallorcan companies based in Palma, have established a collaboration agreement. The union has been made possible thanks to the platform promoted by the Institut d’Innovació Empresarial (IDI) of the Govern de les Illes Balears. This platform was
What do the SARS-CoV2 coronavirus tests detect? Surely in recent weeks you have heard about RT-PCR, serological tests, rapid tests, ELISA… but what are all these tests? What do they detect? How do they work? Are they reliable?Below, we will try to give you a summary to clarify some concepts. The tests currently available detect: ● The virus itself: its
GenoMaterniT+, a safe and reliable non-invasive prenatal test GenoMaterniT+ is a non-invasive prenatal test that allows early detection of trisomies of chromosomes 21, 18, 13, X and Y in the foetus. It is performed on a sample of maternal blood between weeks 10 and 24 of gestation. For this purpose, free foetal DNA in maternal blood is analysed by means
GenoNatal® is an expanded neonatal screening test that can detect 43 congenital metabolic diseases, food intolerances such as coeliac disease and lactose intolerance, and genetic deafness. What is a metabolic disorder? Metabolic diseases are rare disorders in which the body is unable to transform food properly. As a result, there is a build-up of compounds in the blood causing toxicity
What is genetic counselling? Genetic counselling is a communicative process that serves to inform, educate and support patients and families with a suspected or confirmed diagnosis of genetic disease.During the consultation, the genetic counsellor will ask you about your personal and family health history. Based on this information, he or she can determine the likelihood that you or a member
Have you ever wondered why some people eat a lot and don’t put on weight? And conversely, why some people, despite a controlled diet, gain weight easily? As you can imagine, a good part of the reason lies in their genes. Although we don’t know the total number of genes involved, knowledge is growing. Here we explain everything you need
We will all have experienced it, the classmate who excelled in all sports. He or she stood out for speed, endurance, coordination and so many other sporting skills. And we’ve all wondered, is it heredity, is there really such a thing as “sport genes”? In this article, we will address this very question and you will discover how our genes
Genetic screening for breast cancer: its role in prevention and treatment Breast cancer is the most common malignant tumour in the West and the leading cause of death in women between 40 and 55 years of age in our country. Its number is increasing at an annual rate of 1-2%. Thanks to early detection and significant advances in the diagnosis