AI Helps Discover Suitable Drugs for a Serious Metabolic Disease

In the field of drug discovery, artificial intelligence is turning out to be increasingly significant.

AI Helps Discover Suitable Drugs for a Serious Metabolic Disease

Artificial intelligence enabled researchers to discover suitable drugs for a serious metabolic disease. (Image Credit:

Progress in the use of Big Data, learning algorithms, and strong computers has allowed scientists at the University of Zurich (UZH) to gain better insights into a serious metabolic disease.

Cystinosis is a rare lysosomal storage disorder that impacts nearly 1 in 100,000 to 200,000 newborns across the globe. Nephropathic (non-inflammatory) cystinosis, known to be the most common and severe form of the disease, exhibits kidney disease symptoms during the first months of life, often resulting in kidney failure before the age of 10.

Children with cystinosis suffer from a devastating, multisystemic disease, and there are currently no available curative treatments.

Olivier Devuyst, Head, Mechanisms of Inherited Kidney Disorders (MIKADO) Group and Co-Director, ITINERARE University Research Priority Program, University of Zurich

Scientists from the University of Zurich (UZH) worked with Insilico Medicine, a company that uses AI for drug discovery, to reveal the basic cellular mechanism behind kidney disease in cystinosis.

Leveraging model systems and Insilico’s PandaOmics platform, they determined the disease-causing pathways and ranked therapeutic targets inside cystinosis cells.

Their outcomes showed a normal link between the regulation of a protein known as mTORC1 and the disease.

Our research showed that cystine storage stimulates the activation of the mTORC1 protein, leading to the impairment of kidney tubular cell differentiation and function.

Alessandro Luciani, Research Group Leader, University of Zurich

Promising Drug Identified for Treatment

Since patients with cystinosis frequently need a kidney transplant to restore kidney function, there is a pressing need for highly effective treatments. Using the PandaOmics platform, the UZH research group started a search for existing drugs that can be repurposed for cystinosis.

This included an analysis of the drugs’ target enzymes, structure, potential side effects, and efficacy in the affected tissues. The already-licensed drug rapamycin was determined as a promising candidate for cystinosis to be treated.

Studies performed in cell systems and model organisms verified that treatment with rapamycin helped restore the activity of lysosomes and then saved cellular functions.

Olivier Devuyst and Alessandro Luciani are optimistic about future developments: “Although the therapeutic benefits of this approach will require further clinical investigations, we believe that these results, obtained through unique interdisciplinary collaboration, bring us closer to a feasible therapy for cystinosis patients.”

Journal Reference

Berquez, M., et al. (2023) Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization. Nature Communications.

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