rare disease
Through close collaboration of more than 300 genomics and disease experts, the pan-European consortium solved more than 500 difficult cases.
Parents are suing the defendants for negligent genetic counseling and testing that they allege precluded their ability to avoid having children with Duchenne.
Nasdaq to Delist Centogene
The German firm did not appeal the decision and will be delisted after having failed to achieve certain milestones to retain its status as a listed company.
Variantyx Combines Long Nanopore, Short Illumina Reads for Rare Disease Whole-Genome Diagnostic Test
Premium
The firm recently launched the Genomic Unity 2.0 assay, which it claims is the first commercial diagnostic rare disease test to include nanopore sequencing.
Mount Sinai Health Launches Center for Undiagnosed Diseases With $3.3M NIH Grant
Besides making diagnoses, the newest center in the NIH Undiagnosed Diseases Network plans to undertake "research-based characterization" of patients with immunological disorders.