Two companies with access to data from the 100,000 Genomes Project have identified patients with previously undiscovered life-threatening kidney and neurological diseases. The companies, Alexion and BioMarin, were part of Genomic England’s Discovery Forum, which grants certain industry research proposals access to data from the project after vetting.
Direct to consumer testing can potentially be quite dangerous without appropriate regulations and support to fully understand the implications of the information a consumer receives.
SOPHiA GENETICS’ Solid Tumor Solution (STS) application was recently granted a CE-IVD designation, a regulatory stamp that a product has satisfied the EU’s in vitro diagnostic device requirements. We spoke to Gioia Althoff, SOPHiA’s Senior Vice President, Genomics Business Area, about the STS application and where SOPHiA is going from here.
Initial Study on Plasma Samples and Liquid Biopsy Potential Completed by Genomics England, Inivata and Thermo Fisher Scientific
The first stage of a collaboration between Genomics England, Inivata and Thermo Fisher Scientific looking to assess the suitability of circulating tumour DNA (ctDNA) samples collected during the 100,000 Genomes Project has now concluded. The collaboration was also created to objectively evaluate liquid biopsy market offerings and find evidence for implementing that technology in healthcare for better disease treatment and prevention.
The rules that cells use to determine which genes they must activate and under what conditions have been further uncovered by scientists at New York University. The findings develop the understanding around how gene variants affect phenotypic traits.
Certain changes in immune cells within cancerous tumours which reflect how tumours behave in common cancers could see better treatments created in the future. The study, conducted by researchers from the University of Edinburgh, also discovered a set of genes expressed at high levels in breast cancer tumours, and often linked to more aggressive types of cancer.
A study conducted by Northwestern University researchers has found that long-term poverty can be “embedded” across the genome. Lower socioeconomic status was found to be associated with levels of DNA methylation, a key epigenetic mark that can influence expression, across more than 1,500 genes.
A new large-scale study of depression, analysing more than 620,000 individuals, has found that there is no single gene for the disorder, rewriting years of hypotheses and striking a blow to clinical agencies who hoped to create diagnostic tools and treatments for the faulty genes.
Scientists have identified the genes in woman which for sixty years made her virtually immune to pain and anxiety. Two mutations, one common and one not, were responsible for the condition of the woman, resulting also in her wounds healing abnormally quickly.
AstraZeneca has signed a $6.9 billion deal with Daiichi Sankyo for a single antibody-drug conjugate (ADC), trastuzumab deruxtecan.
University of Alberta researchers have discovered an experimental combination drug therapy which dramatically shrinks tumours and prevents metastasis in mice, and could act as a new cancer therapy in the future.
A second individual has experienced sustained remission from HIV after their treatment ended, scientists from the University of Central London and Imperial College have found.
For the first time, scientists have changed human stem cells into functional insulin-producing cells in mice, potentially promising a breakthrough in treatment for those suffering from type 1 diabetes.
With so many talks and panels occurring across our four stages and Live Lounge, we understand that it can be pretty hard to pick out the most unmissable discussions at the festival this year. Given the conundrum, we thought we’d help out! We’ve selected a couple of talks and panels occurring across the two days which we think will be incredibly interesting and enormously informative for a whole range of people.