The new face of cystic fibrosis in the era of population genetic carrier screening

Cystic fibrosis (CF) is the most common life shortening genetic disease among Caucasians. The CF birth rate was previously reported as 1:3500 in Europe[1], but the incidence is variable[2]. CF is an autosomal recessive disease displaying allelic heterogeneity in the  CF transmembrane conductance regulator (CFTR) gene. CFTR pathogenic variants are divided into two main groups – minimal function and residual function. Minimal function variants, associated with pancreatic insufficiency are found in most people with CF.

Source: Journal of Cystic Fibrosis - November 16, 2023 Category: Respiratory Medicine Authors: Miri Dotan, Hannah Blau, Amihood Singer, Patrick Stafler, Dario Prais, Malena Cohen-Cymberknoh, Joel Reiter, Ori Efrati, Adi Dagan, Lea Bentur, Michal Gur, Galit Livnat, Karin Yaacoby-Bianu, Micha Aviram, Inbal Golan Tripto, Ophir Bar-On, Reut Matar, Shan Tags: Original Article Source Type: research