ur which affect normal kidney function. ... To find out if GLIS2 has the same effect in humans Friedh... They found that like the mouse model some patients carried ... This is an excellent example of how combining basic research... The next step will be to translate the insights gained into new...
To find out if GLIS2 has the same effect in humans Friedhelm Hildebrandt and his team at the University of Michigan carried out a genetic screen of patients suffering from NPHP.
They found that like the mouse model some patients carried mutations in the same GLIS2 gene, confirming that GLIS2 is a crucial player in NPHP also in humans.
This is an excellent example of how combining basic research with clinical studies can help uncovering mechanisms of human disease, says Henriette Uhlenhaut who carried out the research in Treiers lab.
The next step will be to translate the insights gained into new therapeutic approaches to develop alternatives to kidney transplantations. With GLIS2 we have already identified one promising candidate drug target and our mouse model will help us find many others.