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Doctors treated the fetus, who has alpha thalassemia major, with cells from her mother’s bone marrow.

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Complications during pregnancy may act via the placenta to magnify the effects of genetic risk factors.

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A new statistical method finds that many genetic variants used to determine trait-disease relationships may have additional effects that GWAS analyses don’t pick up.

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image: Among the Amish, c. 1960s

Among the Amish, c. 1960s

By Diana Kwon | May 1, 2018

Victor McKusick’s pioneering investigations provided insight into hereditary disorders.

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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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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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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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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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