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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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The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.

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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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image: Exome Sequencing Helps Crack Rare Disease Diagnosis

Exome Sequencing Helps Crack Rare Disease Diagnosis

By Amanda B. Keener | May 1, 2018

Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.

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

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image: Infographic: Getting Synapses Ready to Fire

Infographic: Getting Synapses Ready to Fire

By Ashley Yeager | May 1, 2018

A new study reveals more about the role of specialized Schwann cells at junctions between neurons and muscle cells.

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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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DNA from a relative of the suspect submitted to the site GEDmatch gave investigators just enough information to identify him, but the process raises privacy concerns.

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A trio of papers provide new insight into embryo development.

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