rare diseases, disease & medicine, developmental biology
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’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.
The Philadelphia Family Helping to Drive Research on MLD
The Philadelphia Family Helping to Drive Research on MLD
Catherine Offord | May 1, 2018
Though Calliope Joy’s disease is too far progressed to be treatable, her parents have helped other children with metachromatic leukodystrophy get access to an experimental therapy.
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: Piecing the Cholesterol Puzzle
Infographic: Piecing the Cholesterol Puzzle
Diana Kwon | May 1, 2018
How a rare disease led to an understanding of the basics of cholesterol regulation.