Most Recent

image: Book Excerpt from <em>The Power of Rare</em>

Book Excerpt from The Power of Rare

By Victoria Jackson and Michael Yeaman | May 1, 2018

In chapter 4, “Building a Cure Machine,” author Victoria Jackson reveals the challenges in launching a foundation focused on funding research on a rare disease.

0 Comments

image: Caught on Camera

Caught on Camera

By The Scientist Staff | May 1, 2018

Selected rare-disease Images of the Day from the-scientist.com

0 Comments

image: Mitochondrial Isolation System

Mitochondrial Isolation System

By Ruth Williams | May 1, 2018

A transgenic approach allows researchers to collect the organelles from specific cells in nematodes with unprecedented efficiency.

0 Comments

Research suggests that the invasive, all-female Procambarus virginalis originated in a German aquarium back in the 1990s.

0 Comments

image: Rare Disease Geneticist: A Profile of Uta Francke

Rare Disease Geneticist: A Profile of Uta Francke

By Anna Azvolinsky | May 1, 2018

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. 

0 Comments

image: Ten-Minute Sabbatical

Ten-Minute Sabbatical

By The Scientist Staff | May 1, 2018

Take a break from the bench to puzzle and peruse.

0 Comments

The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.

0 Comments

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.

0 Comments

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.

0 Comments

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

0 Comments

Popular Now

  1. How to Separate the Science From the (Jerk) Scientist
  2. Arizona Moves to Alter Wording About Evolution in Education
  3. Prevalent Form of Childhood Leukemia May Be Preventable
  4. Opinion: Should Human-Animal Chimeras Be Granted “Personhood”?