immunology, culture, neuroscience, genetics & genomics
Rare to the Rescue
Rare to the Rescue
Michael Yeaman, Victoria Jackson | May 1, 2018
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
Among the Amish, c. 1960s
Diana Kwon | May 1, 2018
Victor McKusick’s pioneering investigations provided insight into hereditary disorders.
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.
Exome Sequencing Helps Crack Rare Disease Diagnosis
Exome Sequencing Helps Crack Rare Disease Diagnosis
Amanda B. Keener | May 1, 2018
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
Families of Children with Rare Diseases Fuel Gene Therapy Research
Families of Children with Rare Diseases Fuel Gene Therapy Research
The Scientist Staff | May 1, 2018
Crowdfunding can power investigations into diseases that would otherwise receive little attention.
A Devastating Diagnosis, a Viral Video, and a Clinical Trial
A Devastating Diagnosis, a Viral Video, and a Clinical Trial
Diana Kwon | May 1, 2018
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.
Slow March Toward a Canavan Cure
Slow March Toward a Canavan Cure
Ashley Yeager | May 1, 2018
Two decades after a successful crowdfunding campaign, some clinical trial patients have seen improvements—but there’s still no approved treatment for the disease.
Infographic: Getting Synapses Ready to Fire
Infographic: Getting Synapses Ready to Fire
Ashley Yeager | May 1, 2018
A new study reveals more about the role of specialized Schwann cells at junctions between neurons and muscle cells.
Genealogy Website Helped Crack Golden State Killer Case
Genealogy Website Helped Crack Golden State Killer Case
Ashley Yeager | Apr 27, 2018
DNA from a relative of the suspect submitted to the site GEDmatch gave investigators just enough information to identify him, but the process raises privacy concerns.