Science

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.

Better Data on Gene Interactions Could Improve Cancer Treatments

Network algorithms can improve cancer treatment effectiveness by better determining how genes interact, researchers from the University of Sussex have found. The algorithm built by the scientists, Slant, uses current data to find patterns associated with being part of a synthetic lethal interaction.

Genomic Innovations Will Bring Increased Legal Action

Questions around legality, protecting privacy and ensuring quality of data in DNA sequencing all need answering, a symposium recently held at the University of Minnesota has announced. LawSeq, a $2 million project looking to solve the issue of privacy and legality in sequencing, is exploring how to ensure the legal world catches up with current science.

New Polygenic Risk Score Gives Hints Towards Obesity Risk

A new polygenic risk score tested data from 300,000 people to forecast risk of obesity. The study found that 10% of adults with the highest genetic risk were 25 times more likely to become severely obese than the 10% whose genes were most likely to keep them slim.

The Rise of Population-scale Genomic Projects for Pharma R&D Investments

Genetic research is a big data problem without researchers generally having access to this “big” genomic and medical data. Not only has it been nearly impossible to access enough relevant data to support research, but analysing the data has been slow and challenging due to its sheer volume. To counter this, in recent years a number of pharmaceutical companies have announced large-scale collaborations around genomic data to uncover novel drug targets, validate existing drug pipelines, predict response, and expand therapeutics use. We discuss some of the biggest and most recent.

The One-Stop Guide to Genomic Data, Courtesy of Front Line Genomics

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.

Patients with Rare Diseases Identified Through Genomics England’s Discovery Forum

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.

DNA Mutation “Fingerprint Database” Identifies Cancer Causes

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.

Link Between Enhancers and Gene Activation Fleshed Out

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.

CRISPR Identifies Cancer Drug Targets

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.

New “Allelic” Gene Drive Replaces Faulty Genes with Preferred Versions

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.

Amazon Alexa Now HIPAA-Compliant Thanks to Tool Kits

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.

Effects of Poverty Make Their Mark on 1,500 Genes in the Body

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.