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.

Written byMichael Yeaman and Victoria Jackson
| 3 min read

Register for free to listen to this article
Listen with Speechify
0:00
3:00
Share

Regan Arts, September 2017In 2008, a young woman named Ali Guthy experienced eye pain out of the blue. Already extraordinary in her academic, athletic, and leadership achievements, at that moment she unknowingly became an example of the power of being rare.

Neuromyelitis optica (NMO) is an autoimmune disease that can cause inflammation and demyelination of the optic nerves and spinal cord. The devastating effects of NMO can include blindness, paralysis, or worse. A decade ago, fewer than 1 person out of 100,000 was thought to be afflicted with NMO worldwide. Like most autoimmune diseases, NMO predominantly afflicts females, and often strikes in the prime of life.

Although NMO is rare, autoimmune diseases collectively occur with the same incidence as heart disease, and twice that of cancer. Yet, little is known about the risks or causes of autoimmune diseases. And while therapies may tame some of them, treatments can increase the risks of infection and cancer. Few, if any, cures exist.

Even amid the complexities of autoimmune ...

Interested in reading more?

Become a Member of

The Scientist Logo
Receive full access to digital editions of The Scientist, as well as TS Digest, feature stories, more than 35 years of archives, and much more!
Already a member? Login Here

Related Topics

Meet the Author

Published In

May 2018

Rare Diseases

The realities of studying uncommon conditions

Share
July Digest 2025
July 2025, Issue 1

What Causes an Earworm?

Memory-enhancing neural networks may also drive involuntary musical loops in the brain.

View this Issue
Explore synthetic DNA’s many applications in cancer research

Weaving the Fabric of Cancer Research with Synthetic DNA

Twist Bio 
Illustrated plasmids in bright fluorescent colors

Enhancing Elution of Plasmid DNA

cytiva logo
An illustration of green lentiviral particles.

Maximizing Lentivirus Recovery

cytiva logo
Explore new strategies for improving plasmid DNA manufacturing workflows.

Overcoming Obstacles in Plasmid DNA Manufacturing

cytiva logo

Products

shiftbioscience

Shift Bioscience proposes improved ranking system for virtual cell models to accelerate gene target discovery

brandtechscientific-logo

BRANDTECH Scientific Launches New Website for VACUU·LAN® Lab Vacuum Systems

The Scientist Placeholder Image

Waters Enhances Alliance iS HPLC System Software, Setting a New Standard for End-to-End Traceability and Data Integrity 

The Scientist Placeholder Image

Agilent Unveils the Next Generation in LC-Mass Detection: The InfinityLab Pro iQ Series