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rare disease

"Repurposing starts with the human genome," a precision medicine expert said in explaining Vanderbilt's new approach to accelerating clinical trials.

Emilia Pinto and her colleagues are parsing the genetic landscape of adrenocortical tumors and collecting data in a registry.

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.

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In PLOS this week: Mycobacterium abscessus linked to gastric conditions, placental gene expression changes associated with preterm birth, and more.

The Guardian reports that UK universities are looking into ways to reduce labs' reliance on single-use plastics.

People with certain gene variants tend to not like vegetables, particularly bitter ones, CNN reports.

MIT's Technology Review reports on a company's genetic test that gauges an embryo's susceptibility to certain diseases.