Features
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.
Researchers Getting Smarter About Pairing Cancer Treatments
Researchers Getting Smarter About Pairing Cancer Treatments
Anna Azvolinsky | Apr 1, 2018
Multidrug combinations lead to better results for cancer patients, but efficiently identifying them is proving difficult.
Perineuronal Nets: A Mechanism to Control Brain Plasticity
Perineuronal Nets: A Mechanism to Control Brain Plasticity
Daniela Carulli | Apr 1, 2018
The neuronal coverings that mediate synaptic changes are involved in everything from memory to psychiatric disorders, affecting autism, Alzheimer’s, and addiction.
Macrophages Play a Double Role in Cancer
Macrophages Play a Double Role in Cancer
Amanda B. Keener | Apr 1, 2018
Macrophages play numerous roles within tumors, leaving cancer researchers with a choice: eliminate the cells or recruit them.
Paleoproteomics Opens a Window into the Past
Paleoproteomics Opens a Window into the Past
Catherine Offord | Mar 1, 2018
Researchers are looking to proteins to explore the biology of ancient organisms, from medieval humans all the way back to dinosaurs.
Eat Yourself to Live: Autophagy’s Role in Health and Disease
Eat Yourself to Live: Autophagy’s Role in Health and Disease
Vikramjit Lahiri and Daniel J. Klionsky | Mar 1, 2018
New details of the molecular process by which our cells consume themselves point to therapeutic potential.