rare diseases
Rare Disease Geneticist: A Profile of Uta Francke
Rare Disease Geneticist: A Profile of Uta Francke
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. 
Copper Connections
Copper Connections
Jim Daley | May 1, 2018
Researchers initially set out to investigate the relationship between copper homeostasis and the rare Menkes disease, but they also found links to Parkinson’s.
Researchers Turn to Implantable Robots to Regenerate Tissue
Researchers Turn to Implantable Robots to Regenerate Tissue
Shawna Williams | May 1, 2018
The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.
Understanding What Makes a Successful Crowdfunding Campaign
Understanding What Makes a Successful Crowdfunding Campaign
Jim Daley | May 1, 2018
Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.
Caught on Camera
Caught on Camera
The Scientist Staff | May 1, 2018
Selected rare-disease Images of the Day from the-scientist.com
Ten-Minute Sabbatical
Ten-Minute Sabbatical
The Scientist Staff | May 1, 2018
Take a break from the bench to puzzle and peruse.
Bullets and Ballots
Bullets and Ballots
Bob Grant | May 1, 2018
Researching the rare, but all-too-common, disease of gun violence in America will take a concerted political effort.
Book Excerpt from <em>The Power of Rare</em>
Book Excerpt from The Power of Rare
Victoria Jackson, 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.
Ali&rsquo;s Journey
Ali’s Journey
The Scientist Staff | May 1, 2018
Ali Guthy, the daughter of cosmetics entrepreneur Victoria Jackson, discusses NMO, the rare autoimmune disease she suffers from.
Fighting Canavan Disease
Fighting Canavan Disease
The Scientist Staff | May 1, 2018
Meet the family seeking to fund research into a rare disease that afflicts their two boys.