CHOP researchers find exposing cells to a small molecule drug improves cell fitness during hematopoietic stem cell transplants, which could improve ex vivo gene therapy.

Female athletes also had more severe symptoms associated with these injuries.

This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.

Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.

Hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) are overlapping hyperinflammatory syndromes that involve disorganization and malfunction of the immune system, leading to widespread inflammation and organ damage. The conditions can progress rapidly, making early identification and management key for preventing organ failure and death.

Dravet syndrome is a severe neurodevelopmental disorder defined by treatment-resistant epilepsy and features related to autism spectrum disorder.

For decades, doctors and researchers have been working diligently to discover new treatments and provide more options for patients with Duchenne muscular dystrophy (DMD), a debilitating genetic disease that ravages the muscles in the body and leads to a loss of movement and coordination.

CHOP researchers have identified an ionizable LNP that can deliver mRNA base editing tools to the brain to mitigate CNS disease in perinatal mouse models.

CHOP researchers have developed a versatile and low-cost technology for targeted sequencing of full-length RNA molecules.

While mitochondrial function recovered in the lungs, function did not recover in the heart and other organs, leading to long-term damage and a possible explanation for detrimental effects of “long COVID”.