A New York Genome Consortium-led team plans retrospective and prospective analyses on very rare cancers in the hopes of improving treatment options available for patients.
The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.
In patients with a range of rare diseases, RNA sequencing in blood had a 7.5 percent diagnostic rate and identified candidate genes in 16.7 percent of cases.
Silence Therapeutics aims to use the database to help identify new drug targets, as well as for patient recruitment and stratification in clinical trials.
The Genomics4RD platform is focused on data harmonization from research collaborations across Canada, but its developers are eyeing a future in the clinical market.
The UK informatics startup has received funding from Innovate UK to implement an informatics platform for physicians to identify patients for genomic testing.
In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.
