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Rare Disease Day 2024

Rare Disease Day 2024

February 29, 2024

Rare Diseases: Multiple Challenges

Rare diseases are a scientific, health, and political challenge.



Treatments are available for only 5% of rare diseases! Thus, 95% of rare diseases are referred to as “orphan diseases” because even though patients can benefit from symptomatic treatment, there is no specific or etiologic treatment that can cure or at least control the disease.

As mentioned above, the majority of rare diseases have a genetic origin. Gene therapy can therefore provide a solution for some patients. Advances in technology are increasing the potential of this treatment.

All these advances require close collaboration between clinicians, researchers, manufacturers, regulatory authorities, and, increasingly, patient associations. Significant progress has been made, but there is still a long way to go.

The Fourth National Plan for Rare Diseases in France (PNMR4)

Around 300 people (rare disease experts, pharmaceutical and biology manufacturers, patient associations, etc.) worked on the new French national plan for rare diseases: PNMR4. Divided into four working groups corresponding to the four strategic axes (Care Pathways, Diagnostics, Access to Treatment and Innovation, and Health Data and Biobanks), they have developed a roadmap that is being unveiled today.

Santé Active Edition – Synergy Pharm and Rare Diseases

Rare diseases hold a particular interest for the team at Santé Active Edition–Synergy Pharm. We have carried out many projects in this vast field, and two of our medical writers (Emma Pilling and Françoise Nourrit-Poirette) worked for Orphanet before joining us.

Regulatory authorities are also getting involved by hosting specific events: