The 6 entities of the Plateforme Maladies Rares are organizing a Press Conference, Tuesday, February 26, 2019, on the theme "Neonatal Diagnosis and Screening, a French delay".
For a very large number of rare diseases, having a reliable and precise diagnosis is the result of a long diagnostic wandering. Others find themselves in a diagnostic impasse. Improved information and support is necessary. But there are also genome sequencing tools that could reduce the number of errors and finally provide answers. However, they are still not accessible in France!
Some rare diseases that have appropriate treatments and care could be screened at birth. France, which was a pioneer in this field, is now lagging behind. French babies suffering from these diseases have a loss of chance compared to those in neighboring countries. Within the framework of the 12th On the occasion of the International Rare Diseases Day, the six actors of the Plateforme Maladies Rares will review the issues of diagnosis and neonatal screening, two major topics.