rare disease

Centogene opened a Boston office in December and plans to open a lab there in a few months as it awaits an FDA decision on its clinical tool.

Genome Canada and its partners recently funded two new initiatives with C$255 that will back precision medicine, genomics, and technology development.

Some Guarded Hope

The Deseret News reports that families with children with rare genetic diseases are cautiously optimistic about CRISPR-based gene editing as a treatment.

Following some major integration issues and other data challenges, Stanford is preparing to expand genomic medicine beyond rare diseases and cancer.

Researchers profiled cancer gene mutations, expression, protein patterns, and other features in 23 recurrent or metastatic cases of olfactory neuroblastoma.

Genomics England, which runs the UK's 100,000 Genomes Project, has tapped Edico to reprocess thousands of whole genomes for diagnosing rare diseases.

The company has yet to release formal studies, but discussed two cases that illustrate the potential benefit of the methodology in improving patient treatment.

Parents raise money for research into the rare genetic disease affecting their children, ABC News reports.

The creator of the Genome Aggregation Database sees an ever-expanding GnomAD database as a centerpiece to improving the diagnosis of rare diseases.

Congressional lawmakers weigh ending a tax credit that encourages the development of drugs for orphan diseases, the New York Times reports.

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The New York City medical examiner is overseeing an effort to identify missing persons using DNA, according to the Associated Press.

Nobel laureate Günter Blobel has died at 81, the New York Times reports.

In PNAS this week: mouse model of genetically induced emphysema, gene expression signatures of circulating melanoma cells, and more.

Technology Review reports that 2017 was the year of consumer genetic testing and that it could spur new analysis companies.