Stories about: Science

New technique images whole brains with incredible resolution

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Overview of brain structures captured by new imaging technique
Combined expansion microscopy and lattice light-sheet microscopy allows for highly detailed images to be taken over large sections of the brain. (IMAGES COURTESY SRIGOKUL UPADHYAYULA, RUIXUAN GAO, AND SHOH ASANO)

Decades ago, discoveries about the brain’s intricate anatomy were made with careful dissection and drawings. Today, they’re made with super-resolution imaging and massive computing power capable of handling hundreds of terabytes of data.

In this week’s Science, a team out of the Massachusetts Institute of Technology (MIT), the Janelia Research Campus of the Howard Hughes Medical Institute (HHMI), Harvard Medical School (HMS) and Boston Children’s Hospital, describes a technique capable of imaging whole brains at exquisitely high resolution, allowing scientists to distinguish tiny sub-cellular structures. …

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Children raised in institutions have impaired memory and executive functioning at age 16

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long-term effects of child institutionalization

An estimated 8 million children worldwide live in institutions where they experience neglect and deprivation. Last fall, a study of children reared in Romanian orphanages reported high levels of mental health problems when they reached adolescence. In particular, they had more difficult behaviors such as rule-breaking, excessive arguing with authority figures, stealing or assaulting peers. But if they were placed early with carefully vetted foster families through the Bucharest Early Intervention Project (BEIP) , these problems were reduced.

A new BEIP study, published yesterday in the Proceedings of the National Academy of Sciences, examined cognitive functioning. It found that institutionalized children, at ages 8 and 16, also have impaired memory and executive functioning compared with peers placed early in foster homes. …

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Using multiple data streams and artificial intelligence to ‘nowcast’ local flu outbreaks

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(PHOTO: ADOBESTOCK)

Because influenza is so contagious, it’s been challenging to track and forecast flu activity in real time as people move about and travel. While the CDC continuously monitors patient visits for flu-like illness in the U.S., its information can lag by up to two weeks. A new study led by the Computational Health Informatics Program (CHIP) at Boston Children’s Hospital combined multiple approaches, providing what appear to be the most accurate local flu predictions to date. …

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Newborn DNA sequencing finds actionable disease risks in nearly 10% of enrolled babies

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BabySeq study sequenced the DNA of 159 newborns
(PHOTO: AdobeStock)

Current newborn screening tests a baby’s blood for several dozen known, treatable conditions. Can full-on DNA sequencing at birth add more benefit? Interpreting sequencing results is complex: having a genetic variant doesn’t always mean having the disease, and many of the conditions identified may not currently be treatable.

To explore what DNA sequencing might turn up, the BabySeq study, an NIH-funded project, was in launched in 2015. A team led by Ozge Ceyhan-Birsoy, PhD of Partners HealthCare and Alan H. Beggs, PhD, now reports the comprehensive results of whole-exome sequencing in 159 infants. Their analysis is published in the American Journal of Human Genetics. …

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CRISPR-Cas9 screen opens new targets for Ewing sarcoma, other childhood cancers

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Ewing sarcoma research by Kimberly Stegmaier, MD
The TP53 pathway normally helps pull the plug on cancerous cells. While the pathway is intact in most pediatric cancers, research finds that drugs targeting the pathway can curb tumor cell proliferation in Ewing sarcoma. Photo: Kimberly Stegmaier, MD (SAM OGDEN / DANA-FARBER CANCER INSTITUTE)

While the genetic mutations driving adult cancers can sometimes be targeted with drugs, most pediatric cancers lack good targets. That’s because their driving genetic alterations often create fusion proteins that aren’t easy for drugs to attack.

“This is one reason why it is notoriously hard to make targeted drugs against childhood cancers — their cancer-promoting proteins often lack good pockets for drugs to bind to,” says Kimberly Stegmaier, MD.

However, that’s beginning to change. …

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After 80 years, genetic causes of Diamond-Blackfan anemia come into view

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Vijay Sankaran, MD and a patient with Diamond-Blackfan anemia
Hematologist Vijay Sankaran with Jack Farwell (PHOTO: MICHAEL GODERRE / BOSTON CHILDREN’S HOSPITAL)

In 1938, Louis K. Diamond, MD, and Kenneth Blackfan, MD, at Boston Children’s Hospital described a severe congenital anemia that they termed “hypoplastic” (literally, “underdeveloped”) because of the bone marrow’s inability to produce mature, functioning red blood cells. Eighty years later, the multiple genetic origins of this highly rare disease, now known as Diamond-Blackfan anemia, or DBA, are finally coming into view.

The largest study to date, published recently in the American Journal of Human Genetics, raises as many questions as it answers. But in the meantime, it provides a genetic explanation for nearly 80 percent of patients. …

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New angles for blocking Shiga and ricin toxins, and new light on an iconic biological process

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Shiga toxin producing E. coli
Shiga-toxin-producing E. coli (IMAGE: JANICE HANEY CARR / USCDC)

Min Dong, PhD, and his lab are world experts in toxins and how to combat them. They’ve figured out how Clostridium difficile’s most potent toxin gets into cells and zeroed in on the first new botulinum toxin identified since 1969. Now, they’ve set their sights on Shiga and ricin toxins, and not only identified new potential lines of defense, but also shed new light on a fundamental part of cell biology: glycosylation. …

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Reviving fetal hemoglobin in sickle cell disease: First patient is symptom-free

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Manny Johnson of Boston, 21, previously required monthly blood transfusions to keep his severe sickle cell disease under control. After receiving a new gene therapy treatment, he’s been symptom-free for six months.

Researchers at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center reported Manny’s case Saturday at the American Society of Hematology meeting in San Diego. Manny is their first patient, and an ongoing clinical trial will treat additional patients between ages 3 and 40. …

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Microglia in the brain: Which are good and which are bad?

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Timothy Hammond studying brain microglia in the Stevens Lab at Boston Children's Hospital
If we see microglia in brain disease, are they part of the problem, or part of the solution? asks Timothy Hammond. (PHOTOS: MICHAEL GODERRE / BOSTON CHILDREN’S HOSPITAL)

Microglia are known to be important to brain function. The immune cells have been found to protect the brain from injury and infection and are critical during brain development, helping circuits wire properly. They also seem to play a role in disease — showing up, for example, around brain plaques in people with Alzheimer’s.

It turns out microglia aren’t monolithic. They come in different flavors, and unlike the brain’s neurons, they’re always changing. Tim Hammond, PhD, a neuroscientist in the Stevens lab at Boston Children’s Hospital, showed this in an ambitious study, perhaps the most comprehensive survey of microglia ever conducted. Published last week in Immunity, the findings open a new chapter in brain exploration. …

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ctDNA: Bringing ‘liquid biopsies’ to pediatric solid tumors

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Brian Crompton studies the use of ctDNA as an alternative way to biopsy pediatric solid tumors
Brian Crompton with Stephanie Meyer (left) and Kellsey Wuerthele (PHOTO: JOHN DEPUTY)

Our blood carries tiny amounts of DNA from broken-up cells. If we have cancer, some of that DNA comes from tumor cells. Studies performed with adult cancers have shown that this circulating tumor DNA (ctDNA) may offer crucial clues about tumor genetic mutations and how tumors respond to treatment.

Brian Crompton, MD, with colleagues at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and elsewhere, is now working to bring ctDNA “liquid biopsies” to pediatric solid tumors as well. The researchers hope that these blood tests will eventually improve early detection, choice of treatment and monitoring of young patients with these diseases without having to sample the tumor itself. …

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