Features
Contributors

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

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

Ten-Minute Sabbatical
Take a break from the bench to puzzle and peruse.
Freeze Frame

Caught on Camera
Selected rare-disease Images of the Day from the-scientist.com
Notebook

Pinpointing the Origin of Marbled Crayfish Clones
Research suggests that the invasive, all-female Procambarus virginalis originated in a German aquarium back in the 1990s.

Understanding What Makes a Successful Crowdfunding Campaign
Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.

Researchers Turn to Implantable Robots to Regenerate Tissue
The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.

Colorblindness Study Reveals Unexpected Way to Make Blood Vessels
Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.
Modus Operandi

Mitochondrial Isolation System
A transgenic approach allows researchers to collect the organelles from specific cells in nematodes with unprecedented efficiency.
The Literature

Certain Glial Cells Appear to Help Prevent Muscle Fatigue
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.

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

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

Rare Disease Geneticist: A Profile of Uta Francke
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.
Scientist to Watch

Valerie Arboleda Uses Big Data to Unravel the Biology of a Rare Disease
The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.
Lab Tools

Computer Programs Sift Through Spikes in Nerve Cells’ Activity
Software that can separate signals from noise brings neuroscientists a step closer to understanding neurons’ patterns of communication.
Careers

Scientists Are Opting for Remote Postdoc Positions
Technology and family constraints are making the “ghostdoc” more popular, but the setup is not without costs, researchers say.
Reading Frames

Rare to the Rescue
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.
Foundations

Among the Amish, c. 1960s
Victor McKusick’s pioneering investigations provided insight into hereditary disorders.