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Inherited Disease

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

During an NIH meeting, researchers from four newborn sequencing research projects discussed results of their studies and future implications.   

Scientists from the UK and China discussed two new NIPTs that include single-gene disorders and a study to estimate disease recurrence risk in families.

The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.

Invitae will perform genetic testing using a 58-gene panel and Horizon will provide financial support for the program aimed at improving diagnosis of the rare condition.

The direct-to-consumer firm offers whole-genome sequencing for under $1,000, along with specific reports on pharmacogenomics, health traits, and certain diseases.

A New Zealand minister says the country's genetic modification laws need to be re-examined to help combat climate change, the New Zealand Herald reports.

A new analysis finds some cancers receive more nonprofit dollars than others.

An Australian mother's conviction in the deaths of her children may be re-examined after finding that two of the children carried a cardiac arrhythmia-linked gene variant.

In Science this week: comparative analysis of sex differences in mammal gene expression, and more.

Aug
28
Sponsored by
Horizon Discovery

This webinar will provide an overview of alternatives to the popular Cas9 nuclease used in CRISPR gene editing.