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rare disease

Speakers at HudsonAlpha's Genomic Medicine Conference said while sequencing results sometimes result in a diagnosis and change in care, they often have no consequence.

HudsonAlpha's Greg Barsh described results from a Clinical Sequencing Exploratory Research project during the institute's ongoing Genomic Medicine Conference.

Complex SVs played a role in four of 1,300 Mendelian disease cases analyzed, of which nanopore sequencing helped to resolve one.

As part of Invitae's network, patients can build datasets tracking their experiences with rare conditions and make the deidentified data available for research.

Genomic informatics startups Gene42 and SeqOne announced a technology partnership that seeks to improve the yield and speed of rare disease diagnosis.

Victorian Clinical Genetics Services is one of two partners in Acute Care Genomics, which is testing DNA from critically ill infants and kids across Australia.

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.

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The former commissioner of the FDA has returned to the venture capital firm New Enterprise Associates as a special partner on the healthcare investment team.

Astronauts have edited yeast genes on the International Space Station in an experiment designed to show how cells repair themselves in space.

Emory University has found that two of its researchers failed to divulge they had received funds from China, according to the Atlanta Journal-Constitution.

In Science this week: influence of the nuclear genome on human mitochondrial DNA, and more.