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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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Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.

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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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Research suggests that the invasive, all-female Procambarus virginalis originated in a German aquarium back in the 1990s.

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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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image: Rare to the Rescue

Rare to the Rescue

By Victoria Jackson and Michael Yeaman | May 1, 2018

Rarity is a strength, not a weakness, when lessons learned from rare disease patients buoy research and development to find cures for more common diseases.

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The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.

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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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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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