settlers, genetics & genomics, developmental biology
Valerie Arboleda Uses Big Data to Unravel the Biology of a Rare Disease
Valerie Arboleda Uses Big Data to Unravel the Biology of a Rare Disease
Shawna Williams | May 1, 2018
The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.
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.
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.
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.
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.
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.
Plant Engineered to Produce Higher Levels of Antimalarial Compound
Plant Engineered to Produce Higher Levels of Antimalarial Compound
Catherine Offord | Apr 25, 2018
Researchers used the genome sequence of Artemisia annua to boost the plant’s production of artemisinin.
Free Divers From Southeast Asia Evolved Bigger Spleens
Free Divers From Southeast Asia Evolved Bigger Spleens
Anna Azvolinsky | Apr 19, 2018
The adaptation gives better endurance to the Bajau people, known as sea nomads, by increasing spleen size and, in turn, boosting the number of oxygenated red blood cells when diving.