At the root of genetic diseases is a genetic defect that leads to an excessive accumulation or deficiency of substances necessary for the body to function properly. In most cases, these diseases are incurable, take a severe course and eventually lead to death.

Causes and inheritance of genetic diseases

Genetic information contains all the data about the structure, functioning or development of our organism. It is found in the genes, which are arranged linearly on structures called chromosomes and consist of : DNA (deoxyribonucleic acid) and proteins.

Man has 46 chromosomes (23 are inherited from the mother, 23 from the father). The mode of inheritance looks like this: in the case of women, an X chromosome is inherited from the mother (she has two XX chromosomes), and an X chromosome from the father (he has XY).

Men inherit the X from the mother and the Y chromosome from the father. In the case of genetically-mediated diseases, there are mutations / errors in the recording of the genetic information contained in the DNA. Therefore, it is possible for the number of chromosomes to be duplicated (e.g. Down's syndrome), the number of chromosomes to be reduced (e.g. Turner's syndrome) and there may also be changes in their structure.

photo pantherstock

Receiving an altered gene is a random phenomenon, not dependent on us. In a situation where the parents are healthy and do not carry the mutated gene, the chance of having a sick child is small. Sometimes it is the case that parents are unaware that they have a mutation of a gene, and pass it on to their offspring.