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.
CBS This Morning highlights recent Medicare fraud involving offers of genetic testing.
Researchers find that many cancer drugs in development don't work quite how their developers thought they did, as Discover's D-brief blog reports.
Mariya Gabriel, a Bulgarian politician, is to be the next European Union research commissioner, according to Science.
In Science this week: a survey indicates that US adults are more likely to support the agricultural use of gene drives if they target non-native species and if they are limited, and more.