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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: Piecing the Cholesterol Puzzle

Infographic: Piecing the Cholesterol Puzzle

By Diana Kwon | May 1, 2018

How a rare disease led to an understanding of the basics of cholesterol regulation.

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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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image: Trailblazing Endocrinologist Neena Schwartz Dies

Trailblazing Endocrinologist Neena Schwartz Dies

By Kerry Grens | April 27, 2018

The reproductive biologist uncovered hormones important for fertility cycles.

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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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image: Worms’ Magnetic Sense Questioned

Worms’ Magnetic Sense Questioned

By Abby Olena | April 25, 2018

Unsuccessful attempts to reproduce the results of a 2015 study reporting that C. elegans orient themselves by Earth’s magnetic field spark debate among researchers.

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Researchers used the genome sequence of Artemisia annua to boost the plant’s production of artemisinin.

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Rather than getting a gene for its original function, a horizontal gene transfer provides the raw material for evolutionary innovation.

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