Ineke Braakman receives €50,000 from the Dutch Cystic Fibrosis Patient organization (NCFS) to research the effect of intragenic modifiers on CFTR biosynthesis.
Although CF is caused by a defect in only a single gene, CF patients with the same mutation in CFTR show significant variation in disease progression and response to therapy, such as the new drugs. The simplest explanation for this variability may lie in mutations elsewhere in the CFTR gene, called polymorphisms when they do not themselves lead to disease. Only recently have polymorphisms in the CFTR gene of CF patients been considered important enough to systematically identify, and knowledge about their impact is largely lacking.