Stories about: brainstem

Solving the DIPG puzzle a single cell at a time

Image depicting the cellular makeup of DIPG/DMG tumors vs normal brain tissue development
Scientists have discovered that DIPG/DMG tumors are made up of H3K27M-mutated cell populations that contain many cells stuck in a stem-cell-like state, fueling tumor growth. Cells that can differentiate despite the H3K27M mutation could hold the key to unlocking a new therapy for DIPG/DMG.

For more than 15 years, pediatric neuro-oncologist Mariella Filbin, MD, PhD, has been on a scientific crusade to understand DIPG (diffuse intrinsic pontine glioma). She hopes to one day be able to cure a disease that has historically been thought of as an incurable type of childhood brain cancer.

“While I was in medical school, I met a young girl who was diagnosed with DIPG,” Filbin recalls. “When I heard that there was no treatment available, I couldn’t believe that was the case. It really made a huge impression on me and since then, I’ve dedicated all my research to fighting DIPG.”

Her mission brought her to Boston Children’s Hospital for her medical residency program and later, to do postdoctoral research at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Now, she’s starting her own research laboratory focused on DIPG — which has also been called diffuse midline glioma (DMG) in recent years — and continuing to treat children with brain tumors at the Dana-Farber/Boston Children’s pediatric brain tumor treatment center. She’s also a scientist affiliated with the Broad Institute Cancer Program.

This year, Filbin has made new impact in the field by leveraging the newest single-cell genetic sequencing technologies to analyze exactly how DIPG develops in the first place. Her latest research, published in Science, entailed profiling more than 3,300 individual brain cells from biopsies of six different patients.

Using what’s known as a single-cell RNA sequencing approach to interrogate the makeup of DIPG/DMG tumors, Filbin was able to identify a particularly problematic type of brain cell that acts forever young, constantly dividing over and over again in a manner similar to stem cells.

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Whether sleep environment is safe or not, SIDS is linked to brainstem abnormality

SIDS
Inborn vulnerabilities can tip infants toward SIDS.

Epidemiologic studies have shown that infants who die suddenly, unexpectedly and without explanation—what’s referred to as sudden infant death syndrome, or SIDS—are often found sleeping face down with their face in the pillow, or sleeping next to an adult. These are environments that have the potential to cause smothering and asphyxiation. By advising parents to have infants sleep on their backs, in a separate crib or bed, the government’s Safe to Sleep campaign (formerly known as Back to Sleep) has greatly reduced deaths from SIDS.

Hannah Kinney, MD, a neuropathologist at Boston Children’s Hospital, is clear that this campaign must go forward—it’s saved thousands of lives. But still, she receives calls from parents and grandparents haunted by their infants’ death, feeling at fault and wanting a second opinion.

And in many cases, she has been able to document abnormalities in brainstem circuits that help control breathing, heart rate, blood pressure and temperature control during sleep.

What’s lacking is early detection and treatment.

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