The set of genetic information (or genome) determines in conjunction with the environment, our appearance and controls the development of all the organs of our body, such as the brain, heart or kidneys.
Most cells in our body contain 46 chromosomes, organized into 23 pairs, each consisting of one chromosome from the father and the other from the mother. The first 22 couples are similar in men and women, and pair 23 is formed by the sex chromosomes, which is called XX in women and XY in men.
Chromosomes contain genetic information packaged in the form of genes. There are approximately 20,000 genes in the nucleus of each of the cells in our body.
Each gene makes a specific function (or several!), But the function of many of the genes is still unknown. Of each gene we have two copies, one in each chromosome inherited from our parents.
Genetic diseases appear when one or more genes do not work correctly. This dysfunction can be due to the fact that there is an excess of copies of the gene, that one of the copies of the gene is missing, that a piece of the gene is missing or because the information the gene contains is altered. Knowing the genetic alteration that causes the disease is important to make a correct diagnosis to the patient and family members. The alteration of a gene can appear in an individual or be inherited from one or both parents. These alterations are also called mutations. Alterations in genes are present in all people, but occasionally, some of them are the cause of diseases.
At present, more than 3000 diseases of genetic origin are known.
Our experts in genetics help you
understand what your genetic analysis consists of
and what you can expect from it