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New gene related to childhood FSGS identified

A recent study by researchers at the Mario Negri Institute for Pharmacological Research in Italy, published in the New England Journal of Medicine and funded in part by The NephCure Foundation, has identified a new gene associated with the kidney disease Focal Segmental Glomerulosclerosis (FSGS) in children.

The gene MYO1E was found to be the cause of FSGS in two families with multiple children affected by the disease, which attacks the kidney's filtering system, causing serious scarring that allows valuable protein in the blood to leak into the urine.

“This new gene works in a way that we've known about for a while -- affecting the shape and function of podocytes, which are key cells involved in the kidney filtration process,” said NephCure Board Member and medical student Manu Varma. “Adding a piece of knowledge about podocytes shows us that our funded researchers are on the right path and moving towards a cure.”

The researchers found that some patients with these mutations responded to cyclosporine, an immunosuppressant drug that is used to treat kidney disease.

Dr. Mira Krendel (photo right), Dr. Friedhelm Hildebrandt and Dr. Giuseppe Remuzzi are co-authors of the study and they are all partially funded by NephCure for their work.

This finding bolsters the work of Dr. Peter Mundel in 2008, when his team showed that cyclosporine acts directly on the podocyte cytoskeleton and not solely on the immune system in patients with nephrotic syndrome. Dr. Mundel is a nephrologist and researcher at Massachusetts General Hospital in Boston, member of NephCure's Scientific Advisory Board, and has been funded by Nephcure grants for his work.

For a free preview of the study from The New England Journal of Medicine, click here.