AI Brings Hope for Patients with Lyosomal Storage Disease

Artificial intelligence (AI) is becoming increasingly important in drug discovery. Advances in the use of Big Data, learning algorithms and powerful computers have now enabled researchers at the University of Zurich (UZH) to better understand a serious metabolic disease.

Cystinosis is a rare lyosomal storage disorder affecting around 1 in 100,000 to 200,000 newborns worldwide. Nephropathic (non-inflammatory) cystinosis, the most common and severe form of the disease, manifests with kidney disease symptoms during the first months of life, often leading to kidney failure 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 researchers worked with Insilico Medicine, a company that uses AI for drug discovery, to uncover the underlying cellular mechanism behind kidney disease in cystinosis. Leveraging model systems and Insilico’s PandaOmics platform, they identified the disease-causing pathways and prioritized therapeutic targets within cystinosis cells. Their findings revealed a causal association between the regulation of a protein called mTORC1 and the disease. Alessandro Luciani, one of the research group leaders, 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 identified for treatment

As patients with cystinosis often require a kidney transplant to restore kidney function, there is an urgent need for more effective treatments. Utilizing the PandaOmics platform, the UZH research team therefore embarked on a search for existing drugs that could be repurposed for cystinosis. This involved an analysis of the drugs’ structure, target enzymes, potential side effects and efficacy in the affected tissues. The already-licensed drug rapamycin was identified as a promising candidate for treating cystinosis. Studies in cell systems and model organisms confirmed that treatment with rapamycin restored the activity of lysosomes and rescued the 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."

Scientists from the University of Zurich (UZH), the Faculty of Medicine at UCLouvain in Brussels, the Microsoft Research-University of Trento Centre for Computational and Systems Biology, and the company Insilico Medicine were involved in the study. The USA's Cystinosis Research Foundation and the Swiss National Science Foundation (SNSF) provided funding for the study.

Berquez M, Chen Z, Festa BP, Krohn P, Keller SA, Parolo S, Korzinkin M, Gaponova A, Laczko E, Domenici E, Devuyst O, Luciani A.
Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization.
Nat Commun. 2023 Jul 14;14(1):3994. doi: 10.1038/s41467-023-39261-3

Most Popular Now

New AI Tool Predicts Protein-Protein Int…

Scientists from Cleveland Clinic and Cornell University have designed a publicly-available software and web database to break down barriers to identifying key protein-protein interactions to treat with medication. The computational tool...

AI for Real-Rime, Patient-Focused Insigh…

A picture may be worth a thousand words, but still... they both have a lot of work to do to catch up to BiomedGPT. Covered recently in the prestigious journal Nature...

New Research Shows Promise and Limitatio…

Published in JAMA Network Open, a collaborative team of researchers from the University of Minnesota Medical School, Stanford University, Beth Israel Deaconess Medical Center and the University of Virginia studied...

G-Cloud 14 Makes it Easier for NHS to Bu…

NHS organisations will be able to save valuable time and resource in the procurement of technologies that can make a significant difference to patient experience, in the latest iteration of...

Start-Ups will Once Again Have a Starrin…

11 - 14 November 2024, Düsseldorf, Germany. The finalists in the 16th Healthcare Innovation World Cup and the 13th MEDICA START-UP COMPETITION have advanced from around 550 candidates based in 62...

Hampshire Emergency Departments Digitise…

Emergency departments in three hospitals across Hampshire Hospitals NHS Foundation Trust have deployed Alcidion's Miya Emergency, digitising paper processes, saving clinical teams time, automating tasks, and providing trust-wide visibility of...

MEDICA HEALTH IT FORUM: Success in Maste…

11 - 14 November 2024, Düsseldorf, Germany. How can innovations help to master the great challenges and demands with which healthcare is confronted across international borders? This central question will be...

A "Chemical ChatGPT" for New M…

Researchers from the University of Bonn have trained an AI process to predict potential active ingredients with special properties. Therefore, they derived a chemical language model - a kind of...

Siemens Healthineers co-leads EU Project…

Siemens Healthineers is joining forces with more than 20 industry and public partners, including seven leading stroke hospitals, to improve stroke management for patients all over Europe. With a total...

MEDICA and COMPAMED 2024: Shining a Ligh…

11 - 14 November 2024, Düsseldorf, Germany. Christian Grosser, Director Health & Medical Technologies, is looking forward to events getting under way: "From next Monday to Thursday, we will once again...

In 10 Seconds, an AI Model Detects Cance…

Researchers have developed an AI powered model that - in 10 seconds - can determine during surgery if any part of a cancerous brain tumor that could be removed remains...

Does AI Improve Doctors' Diagnoses?

With hospitals already deploying artificial intelligence to improve patient care, a new study has found that using Chat GPT Plus does not significantly improve the accuracy of doctors' diagnoses when...