Tracing a rare smooth muscle disorder to a single mutation in a non-coding gene

A team of investigators from Massachusetts General Hospital (MGH), a founding member of Mass General Brigham (MGB) and Mass General for Children (MGfC) has identified—for the first time—the mutation in a single non-coding gene of a young patient responsible for the extremely rare disease known as multisystemic smooth muscle dysfunction syndrome (MSMDS), which causes profound cerebrovascular, gastrointestinal and urologic impairment.

Digital twin opens way to effective treatment of inflammatory diseases

Inflammatory diseases like rheumatoid arthritis have complex disease mechanisms that can differ from patient to patient with the same diagnosis. This means that currently available drugs have little effect on many patients. Using so-called digital twins, researchers at Karolinska Institutet have now obtained a deeper understanding of the “off and on” proteins that control these diseases. The study, which is published in Cell Reports Medicine, can lead to more personalized drug therapies.

Black and women scientists are less likely to have multiple research grants, finds study

A growing number of researchers have more than two grants simultaneously from the National Institutes of Health (NIH), but women and Black researchers are less likely than white men to be among them, a new Yale study finds. This disparity, the researchers say, has implications for research innovation and public trust and can impact career trajectories.

Study of rare cancer identifies patients at highest risk of metastasis and those who would respond to immunotherapy

Pheochromocytoma is a rare tumor, with an incidence of three to eight cases per million population per year. The work published today, Feb 28, on Rare Disease Day 2023, in Nature Communications, is the largest study on this cancers’ molecular causes and focuses on patients with metastatic pheochromocytomas, which account for 20% of all cases. Survival of patients with metastatic pheochromocytoma is 20–60% at five years.

How do you talk to a whole country about COVID-19? Use a GIF

If you used or lurked on Twitter in March 2020, chances are you saw, or even shared, an animated GIF illustrating how our actions could help “flatten” the COVID-19 “curve.” The teal and orange GIF toggled between two scenarios. In the “whatever” approach, a person downplays the seriousness of COVID-19, which soon leads to health care capacity being overwhelmed. In the alternative “don’t panic, but be careful” approach, a person is shown promoting such things as staying home when sick, which helps “flatten the curve” and keeps hospitals safe.