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Cystinosis Awareness & Research Effort C.A.R.E.
      Cystinosis Awareness & Research Effort - Help Find A Cure
 
    Address/Contact Info
676 Bonavista Dr
Waterloo,   ON   N2K 4E9

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  Phone:  519-880-9495  
 
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    Description

The Cystinosis Awareness and Research Effort ("CARE") is committed to finding a better treatment and cure for Cystinosis, a rare metabolic disease that affects 2000 children and young adults worldwide. The Strauss family of Waterloo Ontario established CARE, Canada's only not-for-profit organization devoted to the Cystinosis cause. CARE works with the Cystinosis Research Foundation ("CRF") in California and together, we are committed to supporting research to improve the quality of life for cystinosis patients.

What is Cystinosis?

Cystinosis is a rare metabolic disease characterized by an accumulation of amino acid cystine in organs and tissues, leading to severe organ dysfunction. Cystine accumlates in the cells of the body and in each and every organ because the body is unable to produce cystinosin, a critical transport protein that cleans the cystine out of the lysosome. There are three forms of cystinosis:  the infantile (nephropathic) form, the intermediate (adolescent, late-onset) form; and the adult (benign) form.

What is cystinosin and why do cells need it?

Cystinosin is a specialized protein that transports cystine out of lysosomes. Cells need the protein cystinosin to control the levels of cystine in cell.

What is a lysosome?

The lysosome is commonly referred to as the cell's recycling centre or the digestive system. The lysosome processes unwanted material into substances that the cell can utilize. Within the lysosome there are transporter proteins that remove matter to be used in other cellular locations. Cystinosin is a specialized transporter protein used to remove cystine from the lysosome.

Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn't function normally, excess products destined for breakdown and recycling are stored in the cell.

 

For more information on Cystinosis visit our website.

 

 



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