Rare Diseases

Volume 32 Issue 5 | May 2018

Featured Articles

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.

Crowdfunding can power investigations into diseases that would otherwise receive little attention.

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.




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


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


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.


A Devastating Diagnosis, a Viral Video, and a Clinical Trial

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

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

Two decades after a successful crowdfunding campaign, some clinical trial patients have seen improvements—but there’s still no approved treatment for the disease.

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.

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.

The Literature

Big Data in 3 Dimensions

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


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.


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.


Among the Amish, c. 1960s

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

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