rare disease
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.
The research study, run by Genomics England in collaboration with the UK's National Health Service, plans to sequence the genomes of 100,000 newborns.
ESHG: Short-Read Genome Sequencing Boosts Rare Disease Diagnoses in European Solve-RD Project
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So far, 90 out of 836 or about 10 percent of families who were analyzed by short-read genome sequencing as part of Solve-RD have received a diagnosis.
OmnigenicsAI, MultiplAI Health to Merge, Go Public in $340M SPAC Deal
The transaction, which is expected to close midyear, will result in OmnigenicsAI becoming publicly traded on the Nasdaq under the ticker symbol OMNI.
Invitae Partners With Prognos Health to Identify Rare Disease Patients, Treatments
Invitae and Prognos will integrate genetic and real-world data to help drug developers develop strategies to improve access to rare disease therapies.