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This rare mutation wipes brain cells, and the trigger is finally known

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors with almost no way to intervene. Researchers have now traced that ...
Forbes

Mutations In Newly Discovered Microproteins Are Changing Our Understanding Of Human Disease

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...
Hosted on MSN

250+ Scientists Are Building The Most Complex Map Of Human Genetic Mutations Ever Created

BETHESDA, Md. — Your body is quietly collecting genetic changes right now, and scientists want to map every single one. A massive new research network is launching the most ambitious genetic study ...

Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...
News-Medical.Net

First topical CRISPR gene therapy corrects disease-causing mutations in human skin

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...
EurekAlert!

Using bacteria as living test tubes to study human gene mutations and find new drug leads

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the University of California San Diego have developed a new simple approach to ...