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Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.
Source: GARD Last updated on 05-01-20
The Cystinosis Research Foundation Second International Cystinosis Research
April 8, 2010 - April 9, 2010
Location: The Beckman Center of the National Academies of Sciences and Engineering, Irvine, CA
Description: Over sixty researchers from around the world attended. Investigators from the United States, Canada, France, Belgium, The Netherlands, Italy, Ireland and Germany presented their current research on cystinosis. All of the research that was presented has received funding support from Cystinosis Research Foundation. The purpose of the Symposium is to learn about research progress and foster collaborations among the researchers in order to hasten the progress in understanding and treating cystinosis.
Last updated on 04-27-20
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