AI helps UC Louvain in fight against cystinosis


Researchers at UC Louvain say they have a world first in academia on their hands: thanks to artificial intelligence (AI), they have found the cause and possibly a treatment for cystinosis.

Cystinosis is a rare, inherited, incurable and devastating metabolic disease. Due to a defect in the transport protein cystinosin, the amino acid cystine accumulates in cells. This leads to cell death. Multiple organs are affected, including the kidneys, eyes, muscles, pancreas and brain. Kidneys are especially prone to this accumulation. The most common form is early cystinosis, which occurs mainly in the first 6 to 18 months of life. One in 100,000 newborns suffer from kidney problems and a variety of other ailments. Before they are 10, they succumb to terminal kidney failure without treatment.
But there is hope! The same genetic defect has been inserted into three animal models covering a period of 350 million years of evolution, namely in fish, rats and humans. The retrieved data was then analysed by the AI platform PandaOmics. This allowed the researchers to establish a causal link between cystinosis and abnormal activation of a certain protein, resulting in damage to kidney cells. Furthermore, they identified rapamycin, a long-standing drug, as a promising candidate for the disease.
AI could also make a difference for other rare genetic diseases, over 90% of which remain untreated.