What are hereditary diseases?
Hereditary diseases, also known as inherited diseases or genetic disorders, are defined and categorised as being a set of genetic diseases that are caused by changes in one's genetic material (DNA). These diseases are then transmitted from generation to generation, or in other words, they are inherited from parents to their children.
What are genetic studies and how important are they?
Genetic studies allow the identification of genes related to and/or responsible for a specific pathology. In addition, they allow personalised attention to each patient, and determine the risk in those cases with a family history of the disease. If a genetic study is performed thoroughly, many deaths can be avoided.
What are the most common hereditary diseases?
There are, unfortunately, a wide variety of hereditary diseases. The most common ones include the following:
- Skin cancer
- Cardiomyopathies (hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy and restrictive cardiomyopathy)
- Inherited arrhythmia syndromes (sudden arrhythmic death syndrome, or SADS), long QT syndrome, Brugada, Catecholamainergic polymorphic ventricular tachycardia (CPTV).
- Inherited aortopathies, for example Marfan syndrome
- Breast cancer
- Prostate cancer
- Lung cancer
- Neuromuscular disorders (eg muscular dystrophy, myotonic dystrophy)
- Familial hypercholesterolaemia
How are hereditary diseases diagnosed?
These kinds of genetic diseases can be detected through a thorough clinical assessment, relevant imaging and where appropriate genetic testing, where DNA us extracted from a blood test and entered into panels of known genes.