Rare diseases: "You have to work and find money"

Out of 7,000 rare diseases only 5% have treatment.

Sylvie Odent, head of the genetics department at the University Hospital of Rennes, and member of the "Developmental Pathologies Genetics" team at the IGDR, Véronique DAVID, took part in drafting the national plan presented on March 6th.

"Every patient is rare whereas the patients are numerous". This imbalance, underlined by Sylvie Odent, head of the genetics department at the University Hospital of Rennes, translates the whole problem of so-called rare diseases.

There are 7,000, but "only" 5% of them have treatment. "You imagine the challenge!"

National plan


To fill this gap, Sylvie Odent participated in the drafting of a national plan that will be presented on March 6th. The outline was revealed this 28th of February. Among the points evoked, a better coordination between all the actors: "There is surely still an important cleavage between the fundamental researchers, those who do the clinical research and the industrialists who will innovate." In other words, everyone works in their own corner while coordinated action could produce more results.

The other points of the national plan should put the patient at the center: "ensure a faster diagnosis", "ensure a more readable path for people and their entourage", "set up new neonatal screening".

"Better care"


Odent concedes that "devices exist, but they are not yet visible enough", such as the creation of 387 reference centers and 1,800 centers of competence for patient follow-up. A "French leadership", says the Ministry of Health.

Meanwhile, for patients with these diseases, "everything is more complicated, in the life course, school integration and employment, because [these patients] are never in the right boxes". It is necessary "that everyone can benefit from the best possible care to which he is entitled as for common diseases," she concludes.



► More information:


- Centre de référence, anomalies du développement et syndromes malformatifs (FECLAD) ;
- Filière de Santé Anomalies du Développement et Déficience intellectuelle de Causes Rares (ANDDI-rares).

 

 

Baptiste Galmiche Article,

 

 

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