More articles about Inherited Disease

CEO Patrick Soon-Shiong said that GPS Cancer test revenues rose threefold year over year during Q4, and 606 GPS tests were ordered, up from 325 a year ago.

Natera and Qiagen have signed a 10-year agreement to develop cell-free DNA assays for use on Qiagen's GeneReader next-generation sequencing system.

The assay correlates shortened telomere lengths in patients of different ages to potential risks for inherited diseases, such as bone marrow failure syndrome and liver cancer.

Cordlife Group, a Singapore-based consumer healthcare company, has partnered with US company PlumCare to offer genetic testing services in Asia.

The firm plans to focus research efforts on immuno-oncology and ongoing population sequencing projects, while continuing to push into the clinical market in India.

If recommended by the US Department of Health and Human Services, spinal muscular atrophy screening will potentially be adopted on the state level.

Whitehead Institute researchers were able to restore nearly full FMR1 expression in a fragile X syndrome iPSC cell line.

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.

In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.

At the Precision Medicine World Conference, Invitae executives noted that early experience in the genetic screening pilot found more people received positive results than previously expected.

The company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests. 

Family members with diabetes and others with insulinomatosis both harbor the same missense MAFA mutation.

The partners will use whole-genome sequencing to investigate the molecular pathways involved in GNE myopathy, a progressive muscle-wasting disease.

The team said that by understanding why some members of this family don't feel pain, they could unearth new drug targets to treat others with chronic pain.

The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.

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

As of this week, the project had sequenced 39,500 genomes and returned reports for about 3,000 rare disease families and more than 600 cancer patients.

Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.

Researchers have increased their estimate of the heritability of ASD to 83 percent based on a reanalysis of their prior study of Swedish families.

Rainbow Genomics will offer exome-sequencing based screening and diagnostic tests developed by Baylor Genetics to patients in Asia.

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An Australian-led team has generated a draft genome assembly of the invasive cane toad in hopes it will help in population control, the Sydney Morning Herald reports.

The New York Times reports that the US Department of Defense has implemented about half the recommendations made to improve safe handling of dangerous agents.

In PLOS this week: approach for teasing out archaic introgression in human genomes, immune transcription features in HCV infection, and more.

Stat News reports that Maryland is promoting itself to the biotech industry with a mobile billboard.