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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: 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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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: 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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