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hypercholesterolemia

Understanding the genetic causes of hypercholesterolemia could provide prognostic information to help treat patients, the researchers said.

The Tapestry study will initially return genetic results for familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome to patients.

Geisinger researchers will work with collaborators at the nonprofit FH Foundation to develop new methods for the identification and cascade testing of FH.

With exome sequences for tens of thousands of Finns, researchers identified deleterious variants linked to dozens of clinically relevant quantitative traits.

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.

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In PLOS this week: gene expression and epigenetics of Indonesian populations, hookworm parasite secretome, and more.