Features
Exome Sequencing Helps Crack Rare Disease Diagnosis
Amanda B. Keener | May 1, 2018 | 10+ min read
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
How Orphan Drugs Became a Highly Profitable Industry
Diana Kwon | May 1, 2018 | 10+ min read
Government incentives, advances in technology, and an army of patient advocates have spun a successful market—but abuses of the system and exorbitant prices could cause a backlash.
Families of Children with Rare Diseases Fuel Gene Therapy Research
The Scientist | May 1, 2018 | 10+ min read
Crowdfunding can power investigations into diseases that would otherwise receive little attention.
A Devastating Diagnosis, a Viral Video, and a Clinical Trial
Diana Kwon | May 1, 2018 | 5 min read
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.
The Philadelphia Family Helping to Drive Research on MLD
Catherine Offord | May 1, 2018 | 4 min read
Though Calliope Joy’s disease is too far progressed to be treatable, her parents have helped other children with metachromatic leukodystrophy get access to an experimental therapy.
Slow March Toward a Canavan Cure
Ashley Yeager | May 1, 2018 | 5 min read
Two decades after a successful crowdfunding campaign, some clinical trial patients have seen improvements—but there’s still no approved treatment for the disease.
Editorial
Bullets and Ballots
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
Ten-Minute Sabbatical
Take a break from the bench to puzzle and peruse.
Contributors
Contributors
Contributors
Meet some of the people featured in the May 2018 issue of The Scientist.
Freeze Frame
Caught on Camera
Caught on Camera
Selected rare-disease Images of the Day from the-scientist.com
Notebook
Pinpointing the Origin of Marbled Crayfish Clones
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
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
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
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
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
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.
Copper Connections
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.
Big Data in 3 Dimensions
Big Data in 3 Dimensions
Viewing oncogenic mutations in 3-D showed that they cluster together on folded proteins.
Profile
Rare Disease Geneticist: A Profile of Uta Francke
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
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
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
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
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
Among the Amish, c. 1960s
Victor McKusick’s pioneering investigations provided insight into hereditary disorders.