Stellan Skarsgård leaned into self-deprecating humor while accepting the Golden Globe for Best Supporting Male Actor in a Motion Picture for Sentimental Value at the 2026 ceremony.
In August 2024, KJ Muldoon was diagnosed with a rare metabolic disease known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency and spent the first 10 months of his life hospitalized, according to the Children’s Hospital of Philadelphia.
Soon after his diagnosis, KJ's parents, Kyle and Nicole Muldoon, connected with Dr. Rebecca Ahrens-Nicklas and Dr. Kiran Musunuru, the Barry J. Gertz Professor for Translational Research at Penn’s Perelman School of Medicine.
The two doctors started working together in 202 to explore new ways of correcting genetic mutations in children with ultra-rare disease. The pair were able to develop a personalized therapy for KJ in just six months using the gene-editing tool CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats).
Months after becoming the first infant to undergo gene-editing therapy for his rare genetic disorder, the 1-year-old has reached another milestone: taking his first steps.
CHOP shared in a December 17 news release that KJ is now walking and preparing to spend Christmas at home with his parents and three siblings, after spending his first holiday season in a hospital room in 2024.
"It's all been a miracle. It's the only way to describe it," his dad, Kyle Muldoon, told Good Morning America on December 18.
The metabolic condition affects 1 in 1.3 million babies and can be life-threatening. The National Organization for Rare Disorders notes that CPS1 deficiency is characterized by a complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme, one of five enzymes that help the body break down and remove nitrogen.
Children with CPS1 deficiency may experience symptoms such as vomiting, refusal to eat, fatigue, and may even have to be in a coma.
"Unfortunately about 50% of babies pass away from this disease in the first week of life," Dr. Rebecca Ahrens-Nicklas, director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program (GTIMD) at CHOP, told GMA.
In April, CHOP reported that KJ had received three doses of gene-editing therapy with no serious side effects. By June, he was discharged from the hospital.
"By the next day he was up laughing, looking around, playing with his toys like nothing ever happened," Nicole recalled to GMA.
Ahrens-Nicklas and Musunuru have noted that their results so far are "quite promising," and KJ's case was detailed in a study published on May 15 by The New England Journal of Medicine.
“Researchers are continuing to explore the causes and potential treatments for other difficult-to-treat metabolic disorders," the hospital wrote. “KJ’s case is also prompting important discussions on how to move forward with new models for approving personalized therapies for rare diseases."
"We want each and every patient to have the potential to experience the same results we saw in this first patient, and we hope that other academic investigators will replicate this method for many rare diseases and give many patients a fair shot at living a healthy life," Musunuru said in May.
“The promise of gene therapy that we’ve heard about for decades is coming to fruition, and it’s going to utterly transform the way we approach medicine.”
