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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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Adding a fusion gene to certain mitochondria in C. elegans enables researchers to collect and analyze them.

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image: Infographic: Rare Disease by the Numbers

Infographic: Rare Disease by the Numbers

By The Scientist Staff | May 1, 2018

How rare conditions and research spending on them compare with more common diseases.

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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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image: Image of the Day: Rainbotubules

Image of the Day: Rainbotubules

By The Scientist Staff | April 26, 2018

By combining two microscopy techniques, researchers produce images of structures less than 10 nanometers wide.

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image: Preterm Labor May Be Sparked by Fetal Immune Reaction

Preterm Labor May Be Sparked by Fetal Immune Reaction

By Ruth Williams | April 25, 2018

Immune cells targeting maternal antigens are abundant in the blood of premature infants, suggesting fetal intolerance of mom may instigate early labor.  

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