A new study shows that gene therapy can significantly improve hearing in both children and adults with congenital deafness caused by mutations in the OTOF gene.
Category: biotech/medical – Page 287
Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia
This study found that involvement of the superior cerebellar peduncles is frequent in patients with GAA-FGF14 ataxia (SCA27B)
ObjectivesGAA-FGF14 ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the FGF14 gene. After the clinical observation of superior cerebellar peduncle (SCP) involvement in some affected patients, we sought to verify the prevalence of this finding in our cohort and 4 additional independent cohorts of patients with SCA27B.
Dr. Robert Schwab, MD — Penn Medicine — CAR-T In Cardiovascular Medicine
Dr. Robert Schwab, MD is a Resident Physician, Research Specialist, and Hematology-Oncology Fellow at Penn Medicine, University of Pennsylvania Health System…
Displays, imaging and sensing: New blue fluorophore breaks efficiency records in both solids and solutions
A new blue fluorescent molecule set new top emission efficiencies in both solid and liquid states, according to a University of Michigan-led study that could pave the way for applications in technology and medicine.
Able to absorb light and emit it at lower energy levels, fluorescent molecules called fluorophores glow in OLED displays and help doctors and scientists figure out what’s happening in cells and tissues. They need to be solid in displays and many sensing applications, but liquids are typically preferred for biological uses. Most fluorophores don’t work well in both forms, but this one does.
The study, “Elucidating the molecular structural origin of efficient emission across solid and solution phases of single benzene fluorophores,” is published in the journal Nature Communications.
Neuropsychological evidence of a third visual pathway specialized for social perception
Recent evidence suggests the existence of a neural pathway specialized for social perception projecting between the well-established “what” and “where” pathways. A new study of neuropsychological patients demonstrates that this social pathway is causally essential for recognizing dynamic facial expressions.
Longevity Summit Dublin 2025 Speakers
Meet the keynote speakers at Longevity Summit Dublin 2025. Explore leaders in aging research, biotech, and longevity science.
Researchers find immune pathway in joint tissue involved in early rheumatoid arthritis
A new study by scientists at the University of Colorado Anschutz Medical Campus reveals that joint tissue from patients with early-stage rheumatoid arthritis often have high levels of a protein called granzyme used by the immune system to attack pathogens.
The study also detected remnants of a bacteria that causes gum disease —gingivitis—in the tissue samples. While a connection between gingivitis and rheumatoid arthritis has long been suspected, this is the first time physical evidence of the bacteria in the joint tissue has been detected.
Researchers said the findings strongly support the hypothesis that these bacteria, initially colonizing gum tissue, somehow drive the development of rheumatoid arthritis, at least in some patients. How the bacteria get into the joints remains unknown. These findings, they said, could lead to earlier diagnosis and treatment of this chronic disease.
AI predicts patients likely to die of sudden cardiac arrest
A new AI model is much better than doctors at identifying patients likely to experience cardiac arrest. The linchpin is the system’s ability to analyze long-underused heart imaging, alongside a full spectrum of medical records, to reveal previously hidden information about a patient’s heart health.
The work, led by Johns Hopkins University researchers, could save many lives and also spare many people unnecessary medical interventions, including the implantation of unneeded defibrillators.
“Currently, we have patients dying in the prime of their lives because they aren’t protected and others who are putting up with defibrillators for the rest of their lives with no benefit,” said senior author Natalia Trayanova, a researcher focused on using artificial intelligence in cardiology. “We have the ability to predict with very high accuracy whether a patient is at very high risk for sudden cardiac death or not.”