Today is Sunday February 28, the 14th edition of World Rare Disease Day. The opportunity to remember that if we talk about the rarity of these diseases, the patients are numerous.
The term “rare” refers to diseases affecting less than one person in
2,500. It is not much, but put together, a lot of people are affected. Hélène Berrué Gaillard, vice-president of the Alliance for rare diseases, explains that: “In the minds of the general public, this means a few rather impressive diseases such as myopathy or cystic fibrosis, but this concerns more than 3 million French people. “
In addition to these few diseases known to the general public, between 7000 and 8000 diseases are identified, and this figure increases each year, without the treatments necessarily following. This is still the case for 85% of them, then called orphan diseases.
The symptoms are sometimes so different from one individual to another that doctors are struggling to identify the disease with certainty. This ignorance then leaves the patients in a phase of diagnostic wandering which can last.
Thérèse Fournier, suffering from Cushing’s disease (due to the production of too much cortisol, the presence of which in excess in the body is responsible for the various symptoms observed), and author of the book Moon Fish says:
In my case, I had a diagnostic wandering that lasted 8 years, during which I was interned in psychiatry twice. The doctors had diagnosed me with psychosis.
Thérèse Fournier, suffering from Cushing’s disease
With 80% of these diseases recognized to be of genetic origin, it is on the side of the genes that the researchers turned, to repair the DNA by replacing a defective gene. This is called gene therapy. Hélène Berrué-Gaillard, specifies:
Very few drugs have been found to cure rare diseases, but gene therapy is an innovation, a hope for many patients.
Hélène Berrué-Gaillard, vice-president of the Alliance for rare diseases
Modifying the diseased gene through DNA would correct a dysfunction in our cells. Lately, this therapy has made tremendous progress, which, in 2020, won the French Emmanuelle Charpentier, the Nobel Prize for the development of molecular scissors, with the American Jennifer Doudna.
Rare diseases – Orphanet
Cure a genetic disease in a snap
Advances and concerns raised by Cripr-Cas 9, the “genetic scissors”