Stéphanie Cherqui, PhD, Principal Investigator, University of California, San Diego
“Advancing the Understanding of Renal Fanconi Syndrome in Cystinosis”
Over the last few years, CRF has awarded $656,485 in research grants to Dr. Cherqui for this important study to better understand how cystinosis affects the kidneys. Even though cystinosin, the protein involved in cystinosis, is expressed in all the organs, the renal Fanconi syndrome is the first manifestation of cystinosis that presents early in the life of the patients while other complications appear years later. Numerous studies investigated the cause of the specific sensitivity of the kidney cells to the absence of cystinosin. While the matter is still unresolved, it is apparent that specific function(s) of cystinosin in the kidney beyond cystine transport explain the early Fanconi syndrome in cystinosis.
Dr. Cherqui’s research project should advance the understanding of the cause of renal Fanconi syndrome in cystinosis, and the findings may lead to new therapeutic approaches for cystinosis. Read the latest progress report from February 2024 – August 2024.
Research study Lay Abstract
