What are genetic diseases?

These are disorders caused by genetic mutations.

Mutation expression pattern:

Certain diseases are caused by the presence of a single genetic mutation: in other words, just one of the two copies of the gene has a mutation, but it will be enough to produce a dysfunctional protein. This type of disease is known as “autosomal-dominant”.

Other diseases will be developed only if the two copies of the same gene are affected by the same mutation. These are the “autosomal-recessive” diseases. A person can carry a single copy of a mutation, which in this case will be silent, and will not have any repercussion on their health.