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

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image: Free Divers From Southeast Asia Evolved Bigger Spleens

Free Divers From Southeast Asia Evolved Bigger Spleens

By Anna Azvolinsky | April 19, 2018

The adaptation gives better endurance to the Bajau people, known as sea nomads, by increasing spleen size and, in turn, boosting the number of oxygenated red blood cells when diving.  

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image: Image of the Day: Retinal Cell Implant

Image of the Day: Retinal Cell Implant

By The Scientist Staff | April 17, 2018

For the first time, a transplant of replacement tissue grown from stem cells has been shown to be feasible for patients with macular degeneration.

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image: Estonia Offers Free Genetic Testing to Residents

Estonia Offers Free Genetic Testing to Residents

By Diana Kwon | April 13, 2018

The nationwide experiment will initially include around 100,000 volunteers.

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