More articles about Inherited Disease

The partners will commercialize Counsyl's Expanded Carrier Screening Test as preconGen, beginning in Spain, Italy, Portugal, Switzerland, and Colombia.

Sequencing the genomes of newborns is still a contentious undertaking with technical and ethical hurdles, although for sick infants, it has been successful. 

A pilot program will allow 100 individuals and families with a rare form of epilepsy to receive exome sequencing as part of a larger epilepsy genetics database effort.

The Israeli startup is establishing a global digital marketplace to facilitate genetic testing services.

PerkinElmer may be nearing an FDA submission for a panel based on technology from the University of Washington, amid a push for state-mandated screening programs.

Exonics will use the funding to advance preclinical research from UT-Southwestern researcher Eric Olson on genome editing of DMD mutations in a mouse model.

The company, a spinoff from genomics service provider Macrogen, plans to offer patients an exome test that screens for more than 4,000 rare diseases.

Under the collaboration, Asuragen will develop diagnostic kits for analyzing repeat sequences using Thermo Fisher's 3500 Dx Series Genetic Analyzer CS2 instrument.

The authors framed their report as a guidebook to help regulatory agencies across the globe coordinate "consistent" rules while allowing for societal differences.

At AGBT, an early adopter of Bionano's technology discussed how his lab is using it in conjunction with NGS to diagnose rare diseases. 

Marshall Summar

The new institute plans to use structured clinical information to inform targeted testing in order to cut down the time to diagnosis.

Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.

UT-SWMC researcher Eric Olson will study dystrophin produced with CRISPR/Cas9 genome editing in a mouse model, as well as off-target effects.

A British team discovered 14 novel genes associated with developmental disorders in addition to several new disorders linked to known genes.

The researchers plan to investigate whether whole-genome sequencing can cost-effectively improve the diagnostic rate for leukodsystrophy patients.

The researchers used both targeted and exome sequencing to genetically diagnose patients.

In a case study, the researchers used PacBio's Sequel instrument to identify a pathogenic deletion that had been missed by short-read sequencing technology.

NIH researchers got tantalizingly close to long-term engraftment at levels that could provide a clinical benefit in gene therapy applications.

The partners will work to offer panel-based genetic characterization for a US-based cohort.

The results begin to adress questions about whether the company's meticulous, but costly research services can actually impact patient outcomes.

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Rare gene mutations are guiding the search for drugs to manage chronic pain without opioids, according to CNBC.

The new Francis Crick Institute building can get too noisy for some researchers to concentrate, according to the Guardian.

CBS News reports that there are still many vacancies at the White House Office of Science and Technology Policy, but that it's uncertain whether they will be filled.

In Nucleic Acids Research this week: pipeline to analyze and visualize bacterial genomes, database of global set of human genomes, and more.