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Baby with a rare disorder receives first custom gene-editing treatment
In a groundbreaking case of one-to-one medicine, National Institutes of Health (NIH)-supported researchers at the Children’s Hospital of Philadelphia (CHOP) and Penn have used a customized CRISPR-based gene-editing therapy to treat an infant with carbamoyl phosphate synthetase 1 (CPS1) deficiency — a rare, often fatal liver disorder. Delivered just six months after diagnosis, the treatment corrected the infant’s faulty gene, enabling the baby to tolerate more dietary protein and weather typical childhood illnesses without the usual risk of brain-damaging ammonia spikes. It marks the first time a personalized CRISPR therapy has been deployed in a human and lays the foundation for rapid, individualized gene editing treatments for hundreds of rare diseases.
Broken heart syndrome is still a threat, especially for men
A broken heart isn’t just a metaphor. New research finds Takotsubo cardiomyopathy — the stress-induced heart condition often linked to emotional trauma — continues to carry high risks of death and serious complications. Analyzing nearly 200,000 hospital cases from 2016 to 2020, researchers found the death rate remained stubbornly high at 6.5%, with men more than twice as likely to die as women. Complications like heart failure, stroke and cardiac arrest were common, and the condition disproportionately affected older adults — though rates were rising among middle-aged folks too. Doctors say we need better tools and treatments, because heartbreak shouldn’t be this deadly.
Why do some COVID survivors bounce back while others are left in a fog? A new study from Corewell Health offers clues. Researchers found that long COVID patients with lingering cognitive issues had lower levels of a brain resilience marker (nerve growth factor) and higher levels of inflammation (IL-10), compared to fully recovered individuals. The study also revealed subtle deficits in verbal fluency and significantly poorer scores on measures of quality of life, physical health and emotional well-being — despite standard brain tests often showing “normal” results. Experts say the findings validate long COVID symptoms and could help tailor treatment with targeted therapies, from speech support to anti-inflammatory interventions.