Rare Diseases

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

Meet some of the people featured in the May 2018 issue of The Scientist.

Take a break from the bench to puzzle and peruse.

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

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

Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.

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

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

A transgenic approach allows researchers to collect the organelles from specific cells in nematodes with unprecedented efficiency.

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.

Viewing oncogenic mutations in 3-D showed that they cluster together on folded proteins.

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

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. 

The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.

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

Technology and family constraints are making the “ghostdoc” more popular, but the setup is not without costs, researchers say.

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.

Victor McKusick’s pioneering investigations provided insight into hereditary disorders.