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image: Caught on Camera

Caught on Camera

By The Scientist Staff | May 1, 2018

Selected rare-disease Images of the Day from the-scientist.com

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The flow of calcium and potassium ions keeps muscles contracting in the diaphragms of neonatal mice, but if a key protein receptor is missing, fatigue sets in more quickly.

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Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.

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Software that can separate signals from noise brings neuroscientists a step closer to understanding neurons’ patterns of communication.

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image: Copper Connections

Copper Connections

By Jim Daley | May 1, 2018

Researchers initially set out to investigate the relationship between copper homeostasis and the rare Menkes disease, but they also found links to Parkinson’s.

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image: Eliza’s Story

Eliza’s Story

By The Scientist Staff | May 1, 2018

Watch the viral video that helped the family of a child with Sanfilippo syndrome raise more than $2 million.

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image: Fighting Canavan Disease

Fighting Canavan Disease

By The Scientist Staff | May 1, 2018

Meet the parents seeking to fund research into a rare disease that afflicts their two boys.

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image: Rare to the Rescue

Rare to the Rescue

By Victoria Jackson and Michael Yeaman | May 1, 2018

Rarity is a strength, not a weakness, when lessons learned from rare disease patients buoy research and development to find cures for more common diseases.

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The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.

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When the O’Neills learned that their daughter had Sanfilippo syndrome, a devastating rare disease, they created a GoFundMe campaign that raised $2 million in less than a year.

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