Figure 1: Altered urea cycle metabolism in KL cells. Figure 3: KL cells and tumours require CPS1. Figure 4: CPS1 silencing results in pyrimidine depletion, replication-fork stalling and DNA damage.

KJ Muldoon was diagnosed with a rare genetic disorder when he was born called severe CPS1 deficiency. KJ is one in a million babies that are diagnosed with this illness. Researchers and doctors used ...

In a global first, scientists have used advanced base editing to repair a deadly gene mutation in a newborn, marking a major leap forward in the treatment of rare ...