Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...
8don MSN
This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief
Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...
A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...
Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing attention deficit hyperactivity disorder. These findings, published in the ...
Certain rare gene mutations can contribute significantly to low levels of a beneficial form of cholesterol in the blood, researchers have found. Low levels of this cholesterol, known as high-density ...
Flinders University researchers have discovered a rare genetic mutation that could explain why some people do not respond to ...
A CRISPR system detects rare cancer mutations in blood with single-nucleotide precision, outperforming ddPCR through engineered RNA guides and isothermal amplification. (Nanowerk Spotlight) Hidden ...
This Rare Disease Day, observed on Feb. 28 worldwide, the American Kidney Fund is committed to improving the understanding of ...
In our earliest science lessons, we learned that anything denser than water sinks. The denser something is, the more easily it sinks. This is seen in people who are more muscular, because muscle is ...
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