Genomics England Announces Congenica as an Interpretation Partner
News Sep 30, 2015
Tom Weaver, CEO of Cambridge-based Congenica, is delighted that its technology is reaching patients and says: “One of the aims of Genomics England is to enable NHS patients to gain early benefit from advances in genomics and through participation in the 100,000 Genomes Project we have been able to accelerate development of our Sapientia™ diagnostic platform.
“Working closely in collaboration with NHS genetics centres we have ensured that the tool is optimised to reduce the workload of the labs and to support consultants diagnose rare genetic diseases.
“Furthermore with the support of these genetics centres we are building a knowledge-base that will make it easier for clinicians to compare the results of their patients with anonymised phenotype data from others previously diagnosed with the same genetic mutations. This is a world-leading resource.”
Genomics England also comments that work is also ongoing with its sequencing partner Illumina to explore a variety of bioinformatic challenges around sequencing. Illumina also originated from Cambridge, UK, which, alongside the work of the Wellcome Trust Sanger Institute, shows the depth of knowledge in this UK genomics cluster.
Genomics England also announced that two new companies, Berg Health and NGM Biopharmaceuticals have joined its industry collaboration, known as the GENE Consortium, which is working on a yearlong industry trial assessing how best to accelerate the development of new diagnostics and treatments for patients.
Commenting on both announcements, Sir John Chisholm, Executive Chairman of Genomics England, said: “We are delighted to welcome two new partners to the GENE Consortium. Exploring how industry will work with this unique dataset along with driving up the quality of the interpretation of genomic data is crucial to us in finding out how to understand and treat disease better in the future. It’s this that will ensure genomic medicine benefits patients for years to come.”
CRISPR Study Reveals Errors in Earlier Cancer ResearchNews
MELK, a protein previously thought to be implicated in cancer, has been shown to be unrelated to the disease.READ MORE
Human Malaria Parasites Grown for the First Time in Dormant FormNews
One of the biggest obstacles to eradicating malaria is a dormant form of the parasite which is resistant to most antimalarial drugs and can reawaken years later, causing disease relapse. Researchers have shown they can grow the dormant parasite in engineered human liver tissue for several weeks, allowing them to closely study how the parasite becomes dormant, what vulnerabilities it may have, and how it springs back to life.READ MORE
Innovative Nanomaterial Made From Natural SubstancesNews
Protein nanofibres often have outstanding properties such as a high stability, biodegradability, or antibacterial effect. Artificially creating these fibres is not easy, much less assigning them specific functions. That and how fibres with new properties can be successfully created is now being reported by materials scientists in a new study.READ MORE