Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.
The study aims to understand the willingness of individuals with a clinical diagnosis of familial hypercholesterolemia and their family members to undergo confirmatory genetic testing.
The MIT-led team that developed the delivery technique said that it was able to induce more than 80 percent editing of the Pcsk9 gene in the livers of mice.
Last week, the firm launched AtheroGxOne the second of two cardiovascular next-gen sequencing panels, and hopes to launch its first liquid biopsy test in 2017.
The firm also said it aims to soon begin human studies for its hepatic porphyria treatment ALN-AS1 and to select a development candidate for its program in primary hyperoxaluria type 1.
NEW YORK (GenomeWeb) – Naturally occurring mutations that disrupt NPC1L1 protein function are associated with lower plasma low-density lipoprotein levels and a reduced risk of coronary heart disease, investigators from the Myocardial Infarction Genetics Consortium
