More articles about Inherited Disease

As part of the collaboration, B. Braun China founded a subsidiary, called B. Braun Precision Medicine Technology (BBPM), that opened in Shanghai in May.

The syndromes — HLRCC and SDH PGL/PCC — suppress DNA repair by homologous recombination, rendering tumors vulnerable to PARP inhibitors. 

Dian selected the MassArray system as its platform of choice for molecular genetic testing and will commercialize it and Agena's DNA applications and products.

Researchers at Columbia University and CHOP believe they can shorten time to diagnosis and improve yield by extracting phenotypic data from EHRs for genomic labs.

The companies will offer free testing to  more rapidly identify individuals with certain mutations, supporting Inozyme's efforts to develop and test new treatments.

Rainbow will offer Color's hereditary cancer and heart health genetic risk assessment tests to patients in Hong Kong.

Researchers from the molecular diagnostics firm said their screen could identify a range of variant types to boost the identification of at-risk couples.

Seventy-eight percent of participants had at least one positive carrier screening result and 3.5 percent had a medically actionable secondary finding.

The Australian Genomics Health Futures Mission will include a series of studies to tackle rare diseases and cancers.

The pilot builds off the MyCode Community Research Health Initiative, for which Regeneron has been sequencing the exomes of Geisinger participants.

The company offers a range of exome-based tests that include both diagnostic tests for rare disease as well as disease-risk screening for asymptomatic adults.

Mutations identified in DNA from the infant's skeleton were linked to bone disorders, including scoliosis, dwarfism, and skeletal dysplasia.

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.

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A genomic analysis of modern and ancient maize reveals a complicated domestication history, according to Reuters.

In PLOS this week: MYRF variant linked to congenital diaphragmatic hernia, analysis of the "dragon's blood" red resin produced by traditional medicine plants, and more.

CNBC reports that half of academic researchers leave after about five years.

Researchers have used genetic analysis to confirm a new type of salamander, the New York Times reports.