genetic disorders

The groups will conduct a study evaluating the benefits of targeted next-generation sequencing in the diagnosis and care of infants with genetic disorders.

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

Illumina is working on further reducing turnaround time of the analysis and on detecting structural variants and repeat expansions.

Centogene will help Aldeyra identify patients with Sjögren-Larsson Syndrome, a rare genetic disease for which Aldeyra is developing a treatment.

Hong Kong-based Rainbow Genomics will provide exome sequencing while UCLA will interpret the data and deliver a clinical report.

The team showed that sequencing can diagnose ill babies faster, leading to better outcomes and saving money by reducing unnecessary treatments and procedures.

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.

Three national organizations focused on prenatal, perinatal, and maternal-fetal care issued a consensus position statement related to genome-wide sequencing for fetal diagnosis.

The test is offered to couples who have had an affected pregnancy, with the goal of providing a diagnosis to enable early prenatal or preimplantation genetic testing. 

Denmark-based Arcedi would like to commercialize its technology through a major diagnostic company.

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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.