PKD is mainly caused by mutations in the PKD1 and PKD2 genes, affecting polycystin proteins. Disrupted signaling pathways, like cAMP and vasopressin, are major drivers of cyst growth. Tolvaptan is ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

Panelists discuss how spinal muscular atrophy is an autosomal recessive genetic disease affecting motor neurons with 3 currently approved disease-modifying therapies that restore SMN protein ...

Researchers have gained insight into the 'hidden genetic defects' of the general European population. This is important because these defects, if inherited from both father and mother, can lead to all ...

Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

Below are diseases that are often screened for in Jewish couples who are planning to have children because of an elevated risk of carrying a recessive mutation. Researchers so far have identified many ...

For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general ...