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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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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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image: The Role of DNA Base Modifications

The Role of DNA Base Modifications

By Skirmantas Kriaucionis | September 1, 2017

Researchers are just beginning to scratch the surface of how several newly recognized epigenetic changes function in the genome.

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image: Forensics 2.0

Forensics 2.0

By Bob Grant | January 1, 2017

Meet the researchers working to untangle the mystery of a Missouri home filled with bones by bringing cutting-edge technologies into the crime lab.

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image: The Pangenome: Are Single Reference Genomes Dead?

The Pangenome: Are Single Reference Genomes Dead?

By Catherine Offord | December 1, 2016

Researchers are abandoning the concept of a list of genes sequenced from a single individual, instead aiming for a way to describe all the genetic variation within a species.

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image: DNA Sequencing: From Tedious to Automatic

DNA Sequencing: From Tedious to Automatic

By Catherine Offord | October 1, 2016

Sequencing has gone from a laborious manual task costing thousands of dollars to a quick and cheap practice that is standard for many laboratories.

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