Good news for children of the Moon 🌙

Xeroderma pigmentosum (XP) is a rare genetic disease that affects young children. These young patients, called children of the Moon, exhibit extreme sensitivity to ultraviolet (UV) rays and an increased risk of skin cancer. Forced to avoid sunlight, they can only go outside at night.


Their condition is caused by a "loss of function" mutation in the gene encoding the XPC protein, a key protein in repairing UV-induced DNA damage from natural light.

In this study, researchers at Irig systematically inhibited 646 different genes, one by one, in patient cells where the XPC protein no longer functions. They demonstrated that inhibiting the gene encoding PIK3C3 partially restores UV-induced cellular damage and improves the survival of XP-C cells.

These findings suggest that using PIK3C3 inhibitors could be a promising therapeutic approach to reduce symptoms and slow disease progression. Although further validation is needed before considering clinical trials, this discovery offers potential treatment options for these patients.

More broadly, this study highlights that the genetic context in which a mutation occurs should always be considered, particularly in oncology.