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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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image: Book Excerpt from <em>The Power of Rare</em>

Book Excerpt from The Power of Rare

By Victoria Jackson and Michael Yeaman | May 1, 2018

In chapter 4, “Building a Cure Machine,” author Victoria Jackson reveals the challenges in launching a foundation focused on funding research on a rare disease.

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image: Bullets and Ballots

Bullets and Ballots

By Bob Grant | May 1, 2018

Researching the rare, but all-too-common, disease of gun violence in America will take a concerted political effort.

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image: Caught on Camera

Caught on Camera

By The Scientist Staff | May 1, 2018

Selected rare-disease Images of the Day from the-scientist.com

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The flow of calcium and potassium ions keeps muscles contracting in the diaphragms of neonatal mice, but if a key protein receptor is missing, fatigue sets in more quickly.

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Software that can separate signals from noise brings neuroscientists a step closer to understanding neurons’ patterns of communication.

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image: Copper Connections

Copper Connections

By Jim Daley | May 1, 2018

Researchers initially set out to investigate the relationship between copper homeostasis and the rare Menkes disease, but they also found links to Parkinson’s.

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image: Eliza’s Story

Eliza’s Story

By The Scientist Staff | May 1, 2018

Watch the viral video that helped the family of a child with Sanfilippo syndrome raise more than $2 million.

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image: Fighting Canavan Disease

Fighting Canavan Disease

By The Scientist Staff | May 1, 2018

Meet the parents seeking to fund research into a rare disease that afflicts their two boys.

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image: Rare Disease Geneticist: A Profile of Uta Francke

Rare Disease Geneticist: A Profile of Uta Francke

By Anna Azvolinsky | May 1, 2018

The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 

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