Inherited Disease

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

The Hong Kong government has initially earmarked HK$682 million (US$87 million) and an average of HK$87 million per year for six years for the project.

Within the country's first whole-genome sequencing program, researchers hope to initially focus on identifying markers associated with hereditary diseases and cancer risk.

The company has begun piloting the software, which is targeted towards bioinformatics companies and clinical laboratories, with early adopters ahead of the planned launch.

The acquisition is expected to enhance Health Network Laboratories’ inherited genetic disorders diagnostic services offerings.

The analysis found that charges for suspected genetic diseases account for between 11 percent and 46 percent of pediatric healthcare costs in the US.

An artificial intelligence-based analysis suggests a third group of ancient hominins likely interbred with human ancestors, according to Popular Mechanics.

In Science this week: reduction in bee phylogenetic diversity, and more.

The New York Times Magazine looks into paleogenomics and how it is revising what's know about human history, but also possibly ignoring lessons learned by archaeologists.

The Economist reports on Synthorx's efforts to use expanded DNA bases they generated to develop a new cancer drug.

Jan
31
Sponsored by
Roche

This webinar highlights the use of single-cell genomics to identify distinct cell types and states associated with enhanced immunity.

Feb
26
Sponsored by
Advanced Cell Diagnostics

This webinar will demonstrate how a research team at the Firestone Institute for Respiratory Health at McMaster University developed a cellular and molecular phenotyping pipeline using archived samples of lung tissue derived from patients diagnosed with fibrotic interstitial lung disease.