Studying an orphan disease by a biophysical approach: The case of cblC

Abstract

A rare disease, as defined by the European Union, is one that affects fewer than 5 persons per 10000, predominantly children. These conditions often lack effective treatments and are considered orphan diseases. Despite their rarity, there are numerous rare diseases, sharing origin and common underlying molecular mechanisms. Focusing on the metabolic rare disease cblC, we demonstrate how an approach based on biophysical methods, can pave the way for exploring novel treatment avenues for such conditions.