Paper of the month

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Stéphanie Nguengang Wakap
European Journal of Human Genetics (2019)
Zum Artikel


Presentation of the Research Network “Early Onset Cystic Kidney Disease”


Presentation of the Research Network “Dystonias””</

Rare diseases are by no means a rare phenomenon. Although every individual disease affects less than five in 10,000 people, overall a large number of people suffer from a rare disease. In Germany, four million people are affected by one of the over 7,000 known rare diseases. Since 2003, the German Federal Ministry of Education and Research has been sponsoring research networks in their endeavours to try to understand the causes of rare diseases and to develop urgently needed new therapeutic approaches. The confederation of specialists on specific disease groups can counteract the problem of small patient numbers and enables the concentrated collection and evaluation of information. Advances in basic research should speed up the diagnosis and thus rapidly supply the affected people with adequate medical treatment. For further information, please go to the Download-menu.

Alle Forschungsverbünde im Überblick