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Lysosomal Storage Disorder Patients Now Have Hope Thanks to AI



Artificial intelligence is becoming progressively significant in drug discovery. Advances in the use of Big Data, learning algorithms and strong PCs have now empowered specialists at the College of Zurich (UZH) to more readily grasp a serious metabolic sickness.

Cystinosis is an uncommon lysosomal storage disorder influencing around 1 of every 100,000 to 200,000 newborns around the world. Nephropathic (non-inflammatory) cystinosis, the most well-known and extreme type of the infection, appears with kidney disease symptoms during the first months of life, frequently prompting kidney disappointment before the age of 10.

“Children with cystinosis suffer from a devastating, multisystemic disease, and there are currently no available curative treatments,” says Olivier Devuyst, head of the Mechanisms of Inherited Kidney Disorders (MIKADO) group and co-director of the ITINERARE University Research Priority Program at UZH.

The UZH specialists worked with Insilico Medicine, an organization that involves AI for drug discovery, to uncover the fundamental cellular system behind kidney illness in cystinosis. Utilizing model systems and Insilico’s PandaOmics platform, they distinguished the disease causing pathways and focused on helpful focuses inside cystinosis cells.

Their discoveries uncovered a causal relationship between the regulation of a protein called mTORC1 and the disease. Alessandro Luciani, one of the examination bunch pioneers, explains, “Our research showed that cystine storage stimulates the activation of the mTORC1 protein, leading to the impairment of kidney tubular cell differentiation and function.”

Promising drug distinguished for treatment

As patients with cystinosis frequently require a kidney transplant to reestablish kidney function, there is a pressing requirement for additional powerful medicines. Using the PandaOmics platform, the UZH research group in this way left on a quest for existing medications that could be reused for cystinosis. This involved an analysis of the drugs’ structure, target enzymes, potential side effects and efficacy in the affected tissues. The generally authorized drug rapamycin was recognized as a promising contender for treating cystinosis.

Studies on in cell systems and model organisms affirmed that treatment with rapamycin restored the activity of lysosomes and saved the cellular functions.

Olivier Devuyst and Alessandro Luciani are hopeful 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.”


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