Rare diseases, from genetic tests to drugs, from research to rehabilitation: everything that needs (still) to be done

Vivien Fazekas's son, who suffers from a rare skin disease, had his condition worsen because the treatments he had received so far were not working. They went to the doctor again and another problem was discovered.

More than a year after the approval of the Rare Disease Plan, a series of five meetings on Corriere.it tried to draw up an assessment of the results obtained and the objectives to be achieved

Revvity, Inc., has announced an agreement with Genomics England to further collaborate on the Generation Study. Under the new contract, Revvity will now also offer DNA sequencing services to screen newborns for rare genetic diseases. This expands...

Rare diseases are those that affect a small number of people or a small proportion of society, not only in Spain, but in the world, those whose appearance in the population is less than 5 cases per 10,000 inhabitants.This type of diseases especially affects those who suffer from them because, in addition to having to deal with them, the consequences and symptoms that each disease has associated, also have to face other challenges associated with…