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Laboratorio diagnóstico genético
Hereditary cancer accounts for a significant proportion of all cancer cases, and its impact on families and prevention strategies is considerable. Understanding the genetic basis of the disease allows us to take early action, improve diagnosis, and offer personalized treatments tailored to each person’s specific risk. In the following post, you will discover everything you need to know.
Lynch syndrome is the most common form of hereditary colorectal cancer. It is caused by mutations in DNA repair genes and increases the risk of colon cancer, endometrial cancer, and other tumors. It is inherited in an autosomal-dominant manner, and genetic testing helps identify people at risk so that more effective prevention and surveillance strategies can be implemented.
A new rare neurodevelopmental disorder caused by a defect in the ESAM gene has been discovered. Affected individuals show profound global developmental delay, epilepsy, severe speech absence or delay, spasticity and intracranial hemorrhages. Exome/genome sequencing is confirmed as a key diagnostic tool.
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.
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
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade’s disease is a severe neurodegenerative genetic disease. It is rare, with an estimated 8,000 people affected worldwide. Foci of familial amyloid polyneuropathy The first cases were detected in northern Portugal in the 16th century. It was called “the foot disease”,
What is intellectual disability? Intellectual disability (ID) is the result of a disturbance in human development that appears before the age of 18. It is characterised by a significant limitation in intellectual functioning and adaptive behaviour. In other words, the concept encompasses people whose cognitive resources are often less than expected for their chronological age. What types of intellectual disabilities