Turning Rare Disease Networks into Knowledge
Genetic characterization of the Albanian Gaucher disease patient population
CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a global network of physicians interested in and aware of this rare metabolic disorder. The fact that CENTOGENE is meanwhile the primary nationwide GD partner in many countries enables unprecedented insights into local prevalence, genotypes, and phenotypes. As an example, CENTOGENE recently described the Albanian GD population in the Journal of Inherited Metabolic Diseases Reports.
- Paskal Cullufi
- et al.