Close Menu

rare disease

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.

The partnership combines sequencing with phenotype information to help diagnose patients with rare diseases. 

This is the first US Food and Drug Administration approval for a drug based solely on data from a basket study.

The Qiagen-led Allele Frequency Community, founded in 2015, is improving the diagnosis of rare diseases by offering ethnically diverse reference sets.

PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.

Pages

The American Prospect writes that the pilot program to test the DNA of migrants could lead to more family separations.

An international commission is to develop a report on how researchers, clinicians, and regulators should evaluate the clinical applications of human germline genome editing.

The US Department of Agriculture presents a new blueprint for animal genomic research.

In Genome Research this week: repetitive element deletion linked to altered methylation and more in form of muscular dystrophy; human contamination in draft bacterial and archaeal genomes; and more.