rare diseases
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.
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.
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.
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.
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.
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.
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.
Infographic: Rare Disease by the Numbers
Infographic: Rare Disease by the Numbers
The Scientist Staff | May 1, 2018
How rare conditions and research spending on them compare with more common diseases.
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.
Birth Defects Linked to Increased Risk of Childhood Cancer
Birth Defects Linked to Increased Risk of Childhood Cancer
Jim Daley | Apr 15, 2018
Certain non-chromosomal defects are strongly associated with specific childhood cancers.