A Ph.D. student in biomolecular engineering at the University of California, Santa Cruz, has built a software program ...

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.

The patient was born with severe carbamoyl phosphate synthetase 1 deficiency. Standard treatment for the rare metabolic disease is a liver transplant, but the patient was not eligible for these ...

In vivo base editing enables precise, single-nucleotide changes to DNA without double-strand breaks. A recent application in ...

Treatment that is tailored just for you A new study highlights a historic step in personalized medicine, utilizing CRISPR gene-editing technology for a life-threatening liver disorder in an infant ...

This innovative software, CRISPRware, optimizes guide RNA design for genome editing, supporting research on genetic disorders ...

The infant was born with a metabolic disorder called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, in which the lack of an enzyme causes a build-up of ammonia in the blood, leading to ...

The markers are CPS (carbamoyl phosphate synthetase 1) for the mitochondria; lgp 120 for the endosome/lysosome; Na/K‐ATPase for the plasma membrane; aldolase for the cytosol; ribophorin for the ER; ...