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Mutations identified in gene causing blindness, early heart attacks

Molecular geneticists have characterized gene mutations in families with pseudoxanthoma elasticum (PXE), a rare inherited disorder that can lead to blindness, early heart attacks, and cardiovascular disease. The study provides the basis for DNA-based carrier detection, prenatal testing, and improved diagnosis of the condition.

When arthritis strikes

A series on rheumatology highlights key steps for diagnosing arthritis and managing related conditions. The series aims to address the growing need for accurate diagnoses and treatment plans in an aging population.

New treatment approach might prevent serious complications of liver disease

Researchers identified a new treatment approach that could prevent life-threatening complications of alpha-1-antitrypsin deficiency. A drug called 4-phenylbutyric acid (PBA) improved secretion of mutant protein, increasing levels by 20% to 50%. This approach may also help patients with other diseases such as Alzheimer's and Parkinson's.

New search for the genetic basis for osteoarthritis

Researchers are conducting the largest study ever to identify the genetic susceptibility for osteoarthritis, a condition affecting over 21 million Americans. The three-year study will analyze DNA samples and health histories of 1,400 families with multiple siblings diagnosed with primary generalized osteoarthritis.

Apple iPhone 17 Pro

Apple iPhone 17 Pro delivers top performance and advanced cameras for field documentation, data collection, and secure research communications.

Neurological disorder inspired European dancing tradition

A historical review suggests that European dancing traditions may have roots in a neurological disorder causing dance-like movements. The Dancing Procession of Echternach, which occurs on the Tuesday following Pentecost, has been linked to the medieval disease hysteric chorea, which caused involuntary dance-like movements.