The journey to a treatment for hereditary spastic paraplegia
In 2016, Darius Ebrahimi-Fakhari, MD, PhD, a neurology fellow at Boston Children’s Hospital, met two little girls with spasticity and decreased muscle tone in their legs, which affected their walking. Both girls, Robbie Edwards and Molly Duffy, had been diagnosed with hereditary spastic paraplegia (HSP), a group of more than 80 genetic conditions. Untreated, the ... Read More about The journey to a treatment for hereditary spastic paraplegia
Finding ways to reduce the financial and social costs of pacemakers
As the number of complex heart operations has increased over the years, so have cases of postoperative heart block, a form of arrhythmia that often requires a pacemaker and more surgery. Heart block occurs when unseen conduction tissue — the cells and electrical signals that control the beating of a heart — is injured. It is a ... Read More about Finding ways to reduce the financial and social costs of pacemakers
Microvillus inclusion disease: From organoids to new treatments
Microvillus inclusion disease (MVID) is a rare type of congenital enteropathy in infants that causes devastating diarrhea and an inability to absorb food. Infants can lose liters of fluid a day, become severely dehydrated, and stop growing. There is no specific treatment. “Until about 10 years ago, 50 percent of kids with MVID would die ... Read More about Microvillus inclusion disease: From organoids to new treatments
Exposing a tumor’s antigens to enhance immunotherapy
Successful immunotherapy for cancer involves activating a person’s own T cells to attack the tumor. But some tumors have a trick: They hide themselves from the immune system by preventing their antigens from being displayed, a necessary step in activating T cells. In new work published in Science, researchers in the Program in Cellular and ... Read More about Exposing a tumor’s antigens to enhance immunotherapy
Combining CAR-T cells and inhibitor drugs for high-risk neuroblastoma
Chimeric antigen receptor (CAR)-T cell therapy is a potent emerging weapon against cancer, altering patients’ T cells so they can better find and destroy tumor cells. But CAR-T cell therapy doesn’t work well in every cancer — including many cases of neuroblastoma, a cancer that begins in young children’s nerve tissue and can metastasize to ... Read More about Combining CAR-T cells and inhibitor drugs for high-risk neuroblastoma
When diagnosis is just the first step: The Brain Gene Registry
Through advances in genetic sequencing, many children with rare, unidentified neurodevelopmental disorders are finally having their mysteries solved. But are they? “Once families receive results of genetic testing, that’s just the beginning of a new journey,” says Maya Chopra, MBBS, FRACP, an investigator with the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital. ... Read More about When diagnosis is just the first step: The Brain Gene Registry