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Inherited Disease

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

The layoffs occurred across 23andMe's consumer business, which is being restructured, but did not impact its therapeutics business.

The Geisinger National Precision Health Initiative ended in 2019 but its leaders joined Genome Medical to bring genomics-informed care to other health systems.

The deal provides whole-genome sequencing for patients with rare diseases or cancer and could make sequencing part of the standard of care for NHS England.

The new guidelines are meant to assist medical professionals in understanding the complexity and implications of exome sequencing in prenatal care.

Invitae will provide genetic testing for 109 genes associated with the conditions, while BioMarin will provide financial support for the program.

Following its departure from the European Union, the UK is to implement a fast-track visa program aimed at attracting scientific talent to Britain, according to BBC News.

ScienceInsider reports that researchers in Brazil are concerned that a creationist was chosen to run the agency that oversees graduate study programs there.

The Washington Post reports that researchers are quickly analyzing the coronavirus that has been causing illness and sharing their findings.

In PLOS this week: common variant associated with BMI in Arctic populations, analysis of microRNA markers associated with being born small for gestational age, and more. 

Feb
05
Sponsored by
LGC

This webinar will provide a behind-the-scenes look at the collaborative development of a novel multiplex assay to speed detection of mosquito-borne illness in the clinical setting.

Feb
26
Sponsored by
Autogen

This webinar will explain how the Clinic for Special Children in Strasburg, Pennsylvania, has transformed its DNA workflows to improve the diagnosis and treatment of genetic illnesses that are prevalent in the pediatric population of its community.