Sciensano & Rare diseases

Sciensano helps to implement some of the actions defined in the Belgian plan for rare diseases:

• Action 1: better financing for the diagnostic tests and monitoring of rare diseases, that are carried out in Belgium or abroad (feasibility study in progress)
• Action 2: quality management in the Centres for Human Genetics (feasibility study in progress) 
• Action 16: the Central Registry of Rare Diseases centralises the data on patients affected by rare diseases in Belgium to improve care and to support research
• Action 17: Sciensano manages the Belgian part of the Orphanet site, an international network that collects all the information on rare diseases.

Sciensano is responsible for processing data from the Central Registry of Rare Diseases.

The Central Registry of Rare Diseases centralises data from all of the Belgian patients affected by rare diseases in order to:

• collect epidemiological data 
• recruit patients more easily for research and clinical trials
• identify the measures needed in terms of healthcare.  

The 8 centres for human genetics that are officially recognised in Belgium collect data for the Central Registry of Rare Diseases: Belgian medical centres for human genetics.

Sciensano also hosts the Belgian Neuromuscular Disease Registry — Registre belge des Maladies Neuromusculaires (BNMDR) and the Registre Belge de la Mucoviscidose — Belgian Cystic Fibrosis Registry. 

Orphanet is the international reference gateway for information on rare diseases and orphan drugs. 

Orphanet aims to help improve diagnostics, care and treatment for patients affected by a rare disease.

Sciensano is responsible:

• for the information related to Belgium in the international database on www.orpha.net
• for the site that holds information specific to Belgium on www.orphanet.be.