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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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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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Crowdfunding can power investigations into diseases that would otherwise receive little attention.

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image: Infographic: Rare Disease by the Numbers

Infographic: Rare Disease by the Numbers

By The Scientist Staff | May 1, 2018

How rare conditions and research spending on them compare with more common diseases.

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image: Slow March Toward a Canavan Cure

Slow March Toward a Canavan Cure

By Ashley Yeager | May 1, 2018

Two decades after a successful crowdfunding campaign, some clinical trial patients have seen improvements—but there’s still no approved treatment for the disease.

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Though Calliope Joy’s disease is too far progressed to be treatable, her parents have helped other children with metachromatic leukodystrophy get access to an experimental therapy.

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image: Preterm Labor May Be Sparked by Fetal Immune Reaction

Preterm Labor May Be Sparked by Fetal Immune Reaction

By Ruth Williams | April 25, 2018

Immune cells targeting maternal antigens are abundant in the blood of premature infants, suggesting fetal intolerance of mom may instigate early labor.  

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