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Two researchers in lab coats examining a brain and pinpointing two areas

Exploring brain operations: Making decisions, snapping to attention, and forming memories

Basic/Translational, Research
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
A heart encircled by a double helix to illustrate the idea of congenital heart disease genetics.

In the genetics of congenital heart disease, noncoding DNA fills in some blanks

Basic/Translational, Research
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
Tagged: congenital heart defect, genetics and genomics, heart, heart center, rare disease
A computer monitor showing an ultrasound

Machine learning algorithm could offer urologists a “crystal ball” for predicting VUR

Data Science, Research
Hydronephrosis is a common congenital anomaly that’s increasingly identified during prenatal ultrasound. Although ultrasound is also the first-line test to screen for hydronephrosis in infants, it is poor at determining dilating vesicoureteral reflux (VUR), one cause of hydronephrosis. A voiding cystourethrogram (VCUG) can better characterize VUR but is more invasive and costlier.  But what if ... Read More about Machine learning algorithm could offer urologists a “crystal ball” for predicting VUR
Tagged: artificial intelligence, urology
A brain in which the brainstem shows inflammation.

Could SIDS be caused by unrecognized brain infections?

Clinical, Research
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?
Tagged: genetics and genomics, infectious diseases, neuroinflammation, research, sudden infant death syndrome
The hand of a doctor holds a pacemaker.

Finding ways to reduce the financial and social costs of pacemakers

Clinical, Research
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
Tagged: arrhythmia, cardiac research, cardiac surgery, cardiology, heart, heart center, medical devices, research
Intestinal microvilli under high magnification.

Microvillus inclusion disease: From organoids to new treatments

Basic/Translational, Research
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
One cell, with long projections, presenting a bit of tissue to another.

Exposing a tumor’s antigens to enhance immunotherapy

Basic/Translational, Research
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
Tagged: cancer, cellular and molecular medicine, immunotherapy
A cancer cell with receptors on its surface, surrounded by CAR-T cells and drug molecules.

Combining CAR-T cells and inhibitor drugs for high-risk neuroblastoma

Clinical Care, Research
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
Brain scans and DNA molecules to convey the Brain Gene Registry.

When diagnosis is just the first step: The Brain Gene Registry

Basic/Translational, Clinical Care
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
Tagged: exome sequencing, genetics and genomics, neuroscience, rare disease, research
Clinicians gather at the bedside of a young patient, illustrating the concept of family-centered rounds.

Helping clinicians embrace family-centered rounds

Clinical Care, Research
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

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