rare-disease
5 stories related to this topic, newest first.
foxnews.comGenetic test identifies rare disorder after 18 years of symptoms
A young woman received a diagnosis of PPP2R5D-associated neurodevelopmental disorder, also known as Jordan syndrome, following whole genome sequencing at a Cleveland Clinic clinic. The condition had previously been misidentified through multiple other labels. Fewer than 500 cases…
StatScientists Link Boy’s Brain Tumor to Gene Therapy Viruses
A 13-month-old boy with a rare disease received an experimental gene therapy after his stem cell transplant failed. A routine scan later revealed a golf-ball-sized tumor on his brain. Scientists have linked the tumor to viruses used in the gene therapy, according to a STAT report…
StatScientists Link Boy’s Brain Tumor to Gene Therapy Viruses
Doctors identified a link between a gene therapy treatment and a brain tumor in a young patient with a rare disease. The case is described as rare, with medical professionals stating that treatment risks must be weighed against benefits. The patient had previously undergone a ste…
prnewswire.comEntrada Duchenne Therapy Falls Short in Early Trial
Entrada Therapeutics reported that its next-generation exon-skipping drug for Duchenne muscular dystrophy did not meet expectations in an early-stage study. The company is among several developing improved treatments aimed at increasing functional dystrophin production in patient…
Substrate placeholder — needs reviewFour-Year-Old Girl Regains Ability to Walk After Rare Brain Disease Diagnosis
A four-year-old girl named Sienna has recovered the ability to walk following a diagnosis of acute necrotising encephalitis in November. Her father, Gary Dunion, reported that she spent five weeks in intensive care and has since progressed to walking unsupported. Community fundra…