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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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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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image: Macrophages Play a Double Role in Cancer

Macrophages Play a Double Role in Cancer

By Amanda B. Keener | April 1, 2018

Macrophages play numerous roles within tumors, leaving cancer researchers with a choice: eliminate the cells or recruit them.

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Multidrug combinations lead to better results for cancer patients, but efficiently identifying them is proving difficult.

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image: Targeting Sodium Channels for Pain Relief

Targeting Sodium Channels for Pain Relief

By Catherine Offord | January 1, 2018

The race to develop analgesic drugs that inhibit sodium channel NaV1.7 is revealing a complex sensory role for the protein.

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New technologies reveal the dynamic changes in mouse and human embryos during the first week after fertilization.

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image: Advancing Techniques Reveal the Brain’s Impressive Diversity

Advancing Techniques Reveal the Brain’s Impressive Diversity

By Sara B. Linker, Tracy A. Bedrosian, and Fred H. Gage | November 1, 2017

No two neurons are alike. What does that mean for brain function?

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