Front Line Genomics’ “Biodata Analysis and Management – Genome Analytics, Interoperability, and Data Life Cycle” report isn’t just an update of our old Genomic Data 101 guides: packed with new information on AI and machine learning,. data discoverability and data interoperability, it is much much more.
Disruptive science can have a significant impact outside of our own domains of research and into our personal lives. Keeping abreast of these developments can help prepare and inspire.
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.
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.
Cambridge and London researchers have created a database of DNA mutation “fingerprints” which can be used to determine the environmental factors contributing to a patient’s tumour. The study, published in Cell journal, can determine 41 different environmental agents linked to cancer, including the traces left in lung tumours by chemicals linked particularly to tobacco smoke.
Compression software company Petagene has announced the addition of “Petagene Protect” to its suite of genomic data projects, giving users the ability to encrypt and manage access to genomic data, as well as ensuring compliance with all relevant regulations.
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.
A team from the Wellcome Trust Sanger Institute and Broad Institute have used CRISPR-Cas9 to identify key genes required for cancer survival. Over 18,000 genes from 30 different cancer types were screened, a computational framework then developed to prioritise the 600 most promising drug development targets.
Scientists at the University of California San Diego have created a new version of a gene drive which could lead to spreading specific, favourably genetic variants through a population. This “allelic drive” uses a guide RNA to direct CRISPR to cut undesired gene variants and replace them with better versions of the gene.
Sano Genetics, a Cambridge-based research start-up, has secured £500,000 in seed funding for its platform which powers research into common disorders like depression and diabetes, as well as rare ones such as muscular dystrophy.
Amazon has announced that new software for its Alexa virtual assistant will allow healthcare companies to build tools which can safely send private information to patients. The announcement was accompanied by the launch of six voice programs created by health companies including Boston Children’s Hospital and digital health company Livongo.
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.
An FDA-approved drug to treat severe asthma also drastically improves the health of those individuals with hypereosinophilic syndromes (HES), rare types of chronic immune disorders. A larger placebo-controlled trial of the drug, benralizumab, will now be undertaken to confirm the results.
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.
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.