News tagged with rare genetic disease

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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Diagnosing GAN one strand at a time

Giant axonal neuropathy (GAN) is an extremely rare genetic disease with only 73 known patients worldwide. GAN causes a gradual failure of motor neurons that stimulate muscles and eventually failure of sensory neurons. New ...

May 22, 2017
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Individualizing health care one byte at a time

Genetic diagnosis of disease and personalization of treatment have the potential to dramatically improve strategies for diagnosis and therapy. Around 80% or rare diseases are thought to have a genetic component, but currently ...

Apr 18, 2017
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