The EMRaDi project focuses on eight rare diseases that are used as “tracers”, two diseases per disease group we focus on in EMRaDi project (syndromal, hematological, neurological, and metabolic rare diseases).
The objective is then to use the results for these rare diseases to help the other rare disease groups of patients and to make global recommendations and developments for cross-border healthcare of rare disease patients in the Euregio Meuse-Rhine (EMR).
The 8 rare diseases are the following :
- Chronic myeloid leukemia (CML)
- Duchenne muscular dystrophy
- Galactosemia type 1
- Huntington disease
- Phenylketonuria (PKU)
- Polycythemia vera (PV)
- Rett syndrome
- Silver-Russell syndrome
We will also gather quantitative data in the three EMR countries on a longer list of rare diseases, this will help to have a better picture of the situation of rare disease patients in our border region.