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Welcome To IRDiRC
Our vision: Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention
Goal 1
All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline
Goal 2
1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options
Goal 3
Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients
Latest News
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey
“Earlier, faster and more accurate diagnosis” We are delighted to share the results…
Incorporating a new disease in the newborn screening programs in Europe: the spinal muscular atrophy case study
A new publication about incorporating Spinal Muscular Atrophy (SMA) in newborn screening programs…
Publishing of Guidance on clinical evaluation of orphan medical devices
The European Commission has published a new Guidance on clinical evaluation of orphan…