Archive for Nancy Fliesler
Exploring brain operations: Making decisions, snapping to attention, and forming memories
How do our brains snap to attention and orient us to the outside world — like when we’re sound asleep and the smoke alarm goes off? And when different choices confront us, how does our brain make decisions? Two groups of researchers at Boston Children’s explored these all-important brain operations. The first study, published February ... Read More about Exploring brain operations: Making decisions, snapping to attention, and forming memories
Tagged: ADHD, alzheimers disease, epilepsy, neuroscience
In the genetics of congenital heart disease, noncoding DNA fills in some blanks
Researchers have been chipping away at the genetic causes of congenital heart disease (CHD) for a couple of decades. About 45 percent of cases of CHD have an identifiable cause, including chromosomal abnormalities, genetic variants affecting protein-coding genes, and environmental factors. What about the rest of the cases of CHD? Noncoding DNA elements have long ... Read More about In the genetics of congenital heart disease, noncoding DNA fills in some blanks
Could SIDS be caused by unrecognized brain infections?
Some infants who pass away from sudden infant death syndrome (SIDS) are known to have had acute minor infections. Could these have played a role in their death? Using next-generation molecular tools, a new study provides evidence that undiagnosed inflammation and occult infection can contribute to SIDS and the brainstem pathology seen in some infants. ... Read More about Could SIDS be caused by unrecognized brain infections?
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
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
Tagged: gastroenterology, organoids, rare disease, stem cells
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
Tagged: cancer, car t-cell therapy, 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
Revisiting race and ethnicity in clinical guidelines
Health care institutions often rely on clinical pathways in assessing patients and making decisions about their care. Some of these care algorithms incorporate race, ethnicity, or ancestry as factors in decision making. But is this helpful or harmful? And is there solid evidence to justify treating people of different racial or ethnic backgrounds differently? Robert ... Read More about Revisiting race and ethnicity in clinical guidelines
Tagged: diabetes, eczema, emergency medicine, fever, health equity, medical training, racism
Helping clinicians embrace family-centered rounds
If you’ve ever been hospitalized, you may have experienced this: groups of doctors coming in and talking about you like you’re not there or addressing you in a perfunctory manner, using medical jargon you don’t understand. Peggy Markle was taken aback when her son was hospitalized for a not-yet-defined condition in Washington and his care ... Read More about Helping clinicians embrace family-centered rounds
Tagged: family partnerships, health equity, medical training, safety