This genetic variant is underdiagnosed, under-recognized, and deadly
The variant is largely found in patients of African descent, and increases the risk for heart failure.
A genetic variant in the gene transthyretin (TTR)—which is found in about 3 percent of individuals of African ancestry—is a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers at Penn Medicine. The study also revealed that a disease caused by this genetic variant, called hereditary transthyretin amyloid cardiomyopathy (hATTR-CM), is significantly under-recognized and underdiagnosed.
The findings, which were published in JAMA, are particularly important given the U.S. Food and Drug Administration’s approval of the first therapy (tafamidis) for ATTR-CM in May 2019. Prior to the new therapy, treatment was largely limited to supportive care for heart failure symptoms and, in rare cases, heart transplant.
“Our findings suggest that hATTR-CM is a more common cause of heart failure than it’s perceived to be, and that physicians are not sufficiently considering the diagnosis in certain patients who present with heart failure,” says the study’s corresponding author Daniel J. Rader,chair of the Department of Genetics at Penn Medicine. “With the recent advances in treatment, it’s critical to identify patients at risk for the disease and, when appropriate, perform the necessary testing to produce an earlier diagnosis and make the effective therapy available.”
Novel plant-based approach to a better, cheaper GLP-1 delivery system
Research led by Penn Dental’s Henry Daniell investigates the use of a lettuce-based, plant-encapsulated delivery platform as a new oral delivery of two GLP-1 drugs previously approved by the FDA in injectable form.
No brain, no gain: Neuronal activity enhances benefits of exercise
Research led by Penn neuroscientist J. Nicholas Betley and collaborators finds that hypothalamic neurons are essential for translating physical exertion into endurance, potentially opening the door to exercise-mimicking therapies.
In honor of Valentine's Day, and as a way of fostering community in her Shakespeare in Love course, Becky Friedman took her students to the University Club for lunch one class period. They talked about the movie "Shakespeare in Love," as part of a broader conversation on how Shakespeare's works are adapted.
In Becky Friedman’s English course Shakespeare in Love, undergraduate students analyze language, genre, and adaptation in the Bard’s plays through the lens of love.
Beating the heat: Designing cooling for bodies in motion
Dorit Aviv, director of Weitzman’s Thermal Architecture Lab, studies how humans, technology, and design intersect, paving the way for the development of novel approaches to cooling people efficiently.
