News tagged with rare disease

Oxidative stress on the brain

Smith-Lemli-Opitz syndrome (SLOS) is a rare disease that occurs when patients inherit from both parents defects in the Dhcr7 gene, which encodes the last enzyme in the cholesterol biosynthesis pathway. A large portion of ...

Aug 24, 2017
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New test for rare immunodeficiency

Researchers at the University of Basel have developed a test to quickly and reliably diagnose a rare and severe immune defect, hepatic veno-occlusive disease with immunodeficiency. They reported on their findings in the Journal ...

Aug 22, 2017
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Terminally-ill British baby Charlie Gard dies

Charlie Gard, the terminally-ill British baby whose plight drew sympathy from Pope Francis and US President Donald Trump and sparked a debate about medical ethics, died on Friday, his mother said.

Jul 28, 2017
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