Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.
When it comes to fully enrolling infants in sequencing studies, parental enthusiasm sometimes seems to wane due to logistical considerations and privacy concerns.
Cystic fibrosis carrier status often did not impact family planning decisions and was sometimes perceived as a risk to unaffected family members.
Researchers from Taiwan followed dozens of children who screened positive for deafness-related genotypes at birth, identifying those with hearing loss over six years.
The addition of certain kinds of information could help clinical labs determine whether variants of uncertain significance are pathogenic or benign.
The WUSTL-developed method detects a bile acid that is found at increased levels in Niemann-Pick patients, and is ready for pilot testing, its developers said.
Tute has partnered with LIMS provider UniConnect to build infrastructure to support gene panels for mitochondrial, metabolic, and other genetic diseases.
Clinicians in Boston are beginning to sequence newborns' genomes, CBS Boston reports.
In PNAS this week: common variants that influence viral load in HIV patients, tumor evolution patterns, and more.
The newborn screening firm has attracted investment from Illumina and institutional investors and a loan from the North Carolina Biotechnology Center.
In Science this week: intellectual property landscape of CRISPR genome editing, and more.
A researcher has been convicted of conspiring to steal genetically engineered rice, Reuters reports.
Harvard Medical School's George Church says a woolly mammoth-elephant hybrid is only a few years away, according to the New Scientist.
Intel is ending its sponsorship of the International Science and Engineering Fair, the New York Times reports.