deafness

The assay detects a mutation that can confer hearing loss in patients, particularly neonates, who have taken gentamicin, an antibiotic prescribed for certain bacterial infections.

Researchers describe a rare genetic disorder that leads to deafness, blindness, and albinism, that's more likely among children of deaf parents, the Washington Post reports.

BEIJING — Like many microarray vendors, CapitalBio sees future growth opportunities in molecular diagnostics.

By Molika Ashford
In the hunt for the genetic causes of hearing loss in local populations, researchers at Tel Aviv University have taken up targeted genomic capture and deep sequencing to root out causative mutations.

At an FDA workshop last month, Lynn Bry spoke in a panel session about the need for a clinically annotated database of variants, detailing how Partners HealthCare Center for Personalized Medicine had developed such a database that is using for its sequencing-based diagnostic tests.

"Next-gen sequencing is going to turn diagnostics completely upside down and on its head," Richard Resnick, CEO of GenomeQuest, said at a recent panel discussion on next-gen sequencing-based diagnostics.

Consulting company McKinsey says diagnostics companies will have to combine genomic data analysis, electronic medical records, effective reimbursement strategies, and regulatory compliance in order to win.

A new report has found that researchers in Africa are still heavily dependent on funding from organizations in the US, Europe, and China, Nature News says.

An article in The Atlantic argues that the progress being made in science isn't keeping pace with the money and time being spent on research.

In Science this week: a CRISPR screen identifies sideroflexin 1 as a requisite component of one-carbon metabolism, and more.