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.

| 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

Keywords

Meet the Author

  • Michael Yeaman

    This person does not yet have a bio.
  • Victoria Jackson

    This person does not yet have a bio.

Published In

May 2018

Rare Diseases

The realities of studying uncommon conditions

Share
Image of a woman in a microbiology lab whose hair is caught on fire from a Bunsen burner.
April 1, 2025, Issue 1

Bunsen Burners and Bad Hair Days

Lab safety rules dictate that one must tie back long hair. Rosemarie Hansen learned the hard way when an open flame turned her locks into a lesson.

View this Issue
Conceptual image of biochemical laboratory sample preparation showing glassware and chemical formulas in the foreground and a scientist holding a pipette in the background.

Taking the Guesswork Out of Quality Control Standards

sartorius logo
An illustration of PFAS bubbles in front of a blue sky with clouds.

PFAS: The Forever Chemicals

sartorius logo
Unlocking the Unattainable in Gene Construction

Unlocking the Unattainable in Gene Construction

dna-script-primarylogo-digital
Concept illustration of acoustic waves and ripples.

Comparing Analytical Solutions for High-Throughput Drug Discovery

sciex

Products

Green Cooling

Thermo Scientific™ Centrifuges with GreenCool Technology

Thermo Fisher Logo
Singleron Avatar

Singleron Biotechnologies and Hamilton Bonaduz AG Announce the Launch of Tensor to Advance Single Cell Sequencing Automation

Zymo Research Logo

Zymo Research Launches Research Grant to Empower Mapping the RNome

Magid Haddouchi, PhD, CCO

Cytosurge Appoints Magid Haddouchi as Chief Commercial Officer