rare diseases, 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.
Eliza's Story
Eliza's Story
The Scientist Staff | May 1, 2018
Watch the viral video that helped the family of a child with Sanfilippo syndrome raise more than $2 million.
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.
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.
How Orphan Drugs Became a Highly Profitable Industry
How Orphan Drugs Became a Highly Profitable Industry
Diana Kwon | May 1, 2018
Government incentives, advances in technology, and an army of patient advocates have spun a successful market—but abuses of the system and exorbitant prices could cause a backlash.
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.