hypercholesterolemia

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. 

The latest offering puts the genetic testing company on the path toward becoming what it calls a preventive health service company.

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's Seqpro Lipo IS is the first approved NGS diagnostic assay for the disease, which affects one in 300 people.

Genetic study of familial hypercholesterolemia implicates link between type 2 diabetes risk and cholesterol transport.

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.

Both drugs are administered subcutaneously using Alnylam's GalNAc conjugates.

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

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Researchers describe a way to share data while keeping it secure, Agence France Presse reports.

In Science this week: genetic mutations typically associated with esophageal cancer are common in older, healthy individuals, and more.

India's Council of Scientific and Industrial Research has a new director-general, according to ScienceInsider.

A new study links more than a hundred genes to autism spectrum disorder, Discover's D-brief blog reports.