A small team of medical workers and researchers in the U.S. has published a case study of two men, both deer hunters, who developed a rare prion disease. In their study, published in the journal Neurology, the group describes ...
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease that affects just 1 in every 20 million people; it is estimated that fewer than 400 children in the world have the disease. HGPS is characterized ...
Apr 22, 2024
0
27
Natural history studies serve as an important standard in medical research because they analyze demographic, genetic, environmental and other variables to better understand how a disease develops and its clinical outcomes.
Apr 22, 2024
0
0
Ciliopathies are rare diseases in which the formation or function of cilia, cylindrical-shaped extensions found on the surface of many cells, is altered. There is a high degree of ciliary specialization, ranging from motile ...
Apr 19, 2024
0
18
Most rare diseases are congenital—including CPAM (congenital pulmonary airway malformations). These are airway malformations of the lungs that can lead to severe breathing problems in some affected newborns and can be associated ...
Apr 16, 2024
0
0
Inside the brains of people with psychosis, two key systems are malfunctioning: a "filter" that directs attention toward important external events and internal thoughts, and a "predictor" composed of pathways that anticipate ...
Apr 11, 2024
0
95
Genetic studies of diseases map segments of the genome driving disease. But to understand how those changes contribute to disease progression, it is important to understand how they may alter gene regulation of disease genes ...
Apr 9, 2024
0
23
A drug used to treat certain bone diseases shows promise for slowing the progression of a rare, painful genetic condition that causes excessive calcium buildup in the arteries, known as arterial calcification due to deficiency ...
Apr 3, 2024
0
0
Behind the term ectodermal dysplasia lies a wide range of genetic disorders that can have a major impact on patients' lives and quality of life. Some cannot sweat, others are born with missing or cone-shaped teeth, while ...
Apr 2, 2024
0
6
Expectations for data sharing among scientists and returning research results to study subjects have evolved in recent years. A new study led by a Georgia State University researcher underscores potential barriers to sharing ...
Apr 2, 2024
0
6
