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hypercholesterolemia

The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.

As of January the project had returned 290 positive results for CDC Tier 1 conditions from 23,500 participants who had undergone exome sequencing.

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.

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The Hill reports President Donald Trump issued an executive directing federal agencies to cut the number of board and advisory committees they have.

The New York Times reports that researchers are combining tools to more quickly develop crops to feed a growing population and cope with shifting climates.

Scientists in Canada are looking to the UK's plan to sequence children with rare conditions for inspiration, the National Post reports.

In PNAS this week: copy number changes arose during polar bear evolution, genomic and transcriptomic analysis of the Siberian hamster, and more.