Biologists identify gene involved in kidney-related birth defects
The newly discovered mutated gene is called GREB1L . It is associated with renal agenesis, a hereditary condition in which children are born with either one kidney or no kidneys at all. Children born with a single kidney, a condition called unilateral renal agenesis, generally live, but they often encounter other health problems, including hypertension and early kidney failure. Children born without kidneys do not survive. John Manak, associate professor in biology, says the finding allows for families carrying the mutation to be told in advance whether their children are at risk of inheriting the disorder. "Essentially, it's a way to determine early on whether the child will likely be born with the disorder or be born healthy," says Manak, corresponding author on the paper. "Imagine the relief the parents would feel in the latter case. In fact, based on our work, we already know that additional families have been identified that harbor mutations in this gene, ...