The Salk Institute-led team developed a system for in vivo activation of endogenous target genes through trans-epigenetic remodeling.
In a pilot study of 92 individuals with familial or suspected genetic chronic kidney disease, researchers successfully diagnosed 24 percent of cases with exome sequencing.
The partners will integrate genomic analyses and de-identified clinical data into Goldfinch's genomic registry of kidney disease patients.
Investigators are searching for non-invasive biomarkers of rejection and earlier stage graft injury in children and adults who have received kidney transplants.
Heterozygous deletions at the chromosome 22q11.2 locus contribute to kidney problems in individuals with DiGeorge syndrome or congenital urogenital conditions.
The Cambridge, Massachusetts-based precision medicine firm hopes to translate molecular information into therapies for chronic kidney diseases.
The firm’s emphasis on automation has yielded Dx products for blood banks, assays for HIV and acute kidney injury, and flexible diagnostic test systems that can adapt to labs’ changing needs.
The company said it will use the funds to commercialize its proteomic PromarkerD kidney disease test and launch an analytical testing service business.
Metabolon will work with Johns Hopkins University and Tufts Medical Center to develop and clinically validate the new blood-based diagnostic.
In PLOS this week: NEK8 mutations in a ciliopathy disorder, characterization of the tea species Camellia sinensis, and more.
A draft bill released by the US House of Representatives appropriations committee would increase the 2019 National Institutes of Health budget by 3 percent.
Bloomberg looks into privacy issues raised by law enforcement's use of genetic genealogy sites.
NBC News reports on the Earth BioGenome Project, which aims to sequence all eukaryotic life on Earth.
In Science this week: environmental DNA can help in studies of marine animals, and more.