neurological disorders
Public-Private Effort Leverages WGS to Speed Diagnosis of Rare Genetic Developmental Disorders
Project FIND-OUT aims to recruit 50 infants to study the impact of genetic testing on families and increase access to genetic testing within the US.
Initial results from a multinational rapid WGS newborn screening program are promising, though organizers hope to create a longitudinal study to support potential clinical uptake.
Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.
Quanterix Licenses Nf-L Antibodies to Siemens Healthineers
Siemens Healthineers will use the technology, which Quanterix acquired as part of its buy of UmanDiagnostics, to develop blood-based Nf-L clinical tests.
The team aims to fully commercialize the 28-biomarker panel for military veterans and civilians who show early symptoms of post-traumatic stress disorder.