FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
Major problems with rare diseases are related to the paucity and the heterogeneity of scientific publications. Standardized large-scale data compilation is one approach to overcome these issues. CENTOGENE meticulously curates consented clinical and genetic observation, and openly shares such internal knowledge with academic partners. The recent characterization of the ultra-rare FAHN-related disorder represents a pertinent example; it was published in the June 2019 issue of Brain.
- Tim W Rattay
- et al.