drug safety, developmental biology, genetics & genomics
Rare Disease Geneticist: A Profile of Uta Francke
Rare Disease Geneticist: A Profile of Uta Francke
Anna Azvolinsky | May 1, 2018
The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 
Colorblindness Study Reveals Unexpected Way to Make Blood Vessels
Colorblindness Study Reveals Unexpected Way to Make Blood Vessels
Ashley Yeager | May 1, 2018
Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.
Researchers Turn to Implantable Robots to Regenerate Tissue
Researchers Turn to Implantable Robots to Regenerate Tissue
Shawna Williams | May 1, 2018
The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.
Pinpointing the Origin of Marbled Crayfish Clones
Pinpointing the Origin of Marbled Crayfish Clones
Diana Kwon | May 1, 2018
Research suggests that the invasive, all-female Procambarus virginalis originated in a German aquarium back in the 1990s.
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.
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.
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.
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.
Studies Show How Cells Differentiate at Life’s Beginning
Studies Show How Cells Differentiate at Life’s Beginning
Shawna Williams | Apr 27, 2018
A trio of papers provide new insight into embryo development.