Discovery of a Carbamoyl Phosphate Synthetase 1-Deficient HCC Subtype With Therapeutic Potential Through Integrative Genomic and Experimental Analysis. Hepatology (Baltimore, Md.), 74(6), 3249–3268.

Shortly after being born during the summer of 2024, KJ Muldoon was diagnosed with severe Carbamoyl Phosphate Synthetase 1 deficiency, a rare genetic disorder. While the only effective long-term ...

KJ Muldoon was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency after his birth in August 2024; Doctors were able to create a custom therapy to treat the rare condition ...

Base editors can correct disease-causing genetic variants. After a neonate had received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency, a disease with an estimated 50% mortality ...

In a major breakthrough, a patient has been treated with a personalized CRISPR therapeutic that aims to cure their rare genetic disease. This individual, who is known as KJ, was diagnosed with severe ...

Baby KJ had been diagnosed with carbamoyl phosphate synthetase 1 (CPS1) deficiency shortly after his birth in August 2024. In a mere six months, scientists across academia and industry developed and ...

KJ Muldoon, a 10-month-old who was born with severe carbamoyl phosphate synthetase 1 deficiency, received the first infusion of the bespoke therapy in February.

KJ Muldoon was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency after his birth in August 2024. Doctors were able to create a custom therapy to treat the rare condition ...

The physician quickly ordered tests, which ultimately returned a grave diagnosis: a metabolic disease called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, caused by a genetic mutation ...

KJ Muldoon was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency after his birth in August 2024 Doctors were able to create a custom therapy to treat the rare condition within ...