Autosomal dominant polycystic kidney disease (ADPKD) is a severe genetic disorder primarily caused by mutations in the PKD1 or PKD2 genes, which encode polycystins 1 and 2, affecting over 12 million ...
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CF transmembrane regulator (CFTR) gene, leading to progressive lung disease and systemic complications. Lung disease ...
PANTHERx® Rare, a leader in rare disease product patient access and support services in the United States, is pleased to announce that it was selected by Neurocrine Biosciences, Inc. for the ...
In October 2020, a genetic test conducted at a hospital in Pune revealed a NIPAL4 mutation, confirming a diagnosis of autosomal recessive congenital ichthyosis, a severe genetic disorder. With a ...
Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced that Dr. Reshma Kewalramani, Chief Executive Officer and President, will present at the 43rd Annual J.P. Morgan Healthcare Conference ...