According to a story from SciTech Daily, a team of researchers affiliated with the University of Zurich’s ITINERARE University Research Priority Program recently collaborated with Insilico Medicine to conduct research on the rare disease cystinosis. Insilico is a company that is focused on using AI-powered tools to accelerate drug discovery. More specifically, they sought to understand the mechanism behind kidney disease associated with cystinosis and identify possible therapeutic targets.

About Cystinosis

Cystinosis is a type of lysosomal storage disease which is characterized by the abnormal accumulation of the amino acid cystine in the body. The disease is caused by mutations affecting the CTNS gene. This disease leads to the formation of cystine crystals in different areas of the body, particularly the cornea. Severe cystinosis can cause major symptoms early in life, such as kidney failure, growth and developmental impairments, diabetes, muscle atrophy, reduced skin and hair pigment, blindness, impaired sweating, and inability to swallow. Treatment of cystinosis includes cysteamine, which can impair the growth of crystals in the body; sodium citrate is also used to control blood acidity. If kidney failure occurs, dialysis and ultimately a kidney transplant are necessary for survival. To learn more about cystinosis, click here.

About the Study

The research leveraged AI model systems as well as Insilico’s proprietary platform, PandaOmics. When they used the approach on cells affected by cystinosis, they found that regulation of a protein called mTORC1 played a role in the disease mechanism. Accumulation of cystine results in the protein becoming activated, which impairs the function of the kidneys by disrupting differentiation of the kidney tubular cells. 

After discovering this previously unknown mechanism, the researchers set about researching drugs that could act on it. One option that they found was rapamycin, which has already been approved for several other uses. Future research will involve clinical evaluation of the drug in people living with cystinosis kidney disease. Prior research has found that rapamycin can restore cellular functions and lysosome activity, a critical cellular organelle.

Check out the original study here.