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Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

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

Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.

The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.

The assessment incorporates different ethnic backgrounds, but debate continues among researchers on the utility of polygenic risk scores for diabetes.

A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.

University of Idaho researchers model the scientific discovery process to examine the link between reproducibility and scientific truth.

A bill passed by a US House of Representatives appropriations subcommittee would give scientific agencies including the National Science Foundation boosts in funding.

Relocating USDA agencies outside of Washington, DC, may make them less effective, critics of the move tell NPR.

In PLOS this week: genes that help Borrelia burgdorferi survive in ticks, CiliaCarta collection of about 1,000 suspected cilia genes, and more.

Jun
04
Sponsored by
NanoCellect

This webinar will discuss a study that used CRISPR/Cas9 to engineer mice harboring risk variants associated with glaucoma in order to assess their functional relevance. 

Jun
13
Sponsored by
Roche

Ribosomal ribonucleic acid (rRNA) accounts for up to 99 percent of the total RNA depending on the cell type. 

Jun
17
Sponsored by
Illumina

This webinar will provide an overview of polygenic risk scores, which aggregate dozens of genetic variants that have been linked to disease risk in genome-wide association studies (GWAS) into a single score.

Jun
18
Sponsored by
ArcherDX

This webinar will discuss background and clinical genomics of NTRK fusion detection in cancer. NTRK fusions are the focus of new therapeutic options, but clonal and subclonal lesions are notoriously difficult to detect.