Genetics

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.

An Interview with SOPHiA GENETICS: STS and the CE-IVD Designation

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.

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.

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.

Using Immune Cells to Predict Cancer Outcomes

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.

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.

Depression Not Caused by Genetics Alone, Study Finds

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.

New Sequencing Test for Huntington’s Could Cut Short Results Waiting Time by Weeks

A collaboration between Viapath, NIHR Guy’s and St Thomas’ Biomedical Research Centre has created the world’s first nanopore-based genetic sequencing test for Huntington’s disease, now available at Guy’s and St Thomas’ hospitals. If successful, the test could cut waiting time for complicated Huntington’s cases, and could have big ramifications for other disorders in the future.

More Than 13,000 Genetic Edits Made to Single Cell

Harvard College researchers have announced that more than 13,000 genetic alterations have been made to a single cell using CRISPR technology. This work is designed to edit genomes at a much larger scale than currently possible.

Expanded StrataNGS Test Analyses 500 Genes in Advanced Cancer Patients

Oncology and precision medicine company Strata Oncology has announced the launch of its expanded StrataNGS test 3.0 for patients with advanced cancer. The test analyses 500 genes for three particular immunotherapy biomarkers, microsatellite instability (MSI), tumor mutational  burden (TMB) and PD-L1, to better inform use of precision treatments.

Biogen’s Lead Alzheimer’s Drug Falls Down at Phase Three Trials

Pharma giant Biogen and its Japanese partner Eisai have made the decision to halt two phase 3 trials of aducanumab, a drug created to slow Alzheimer’s by targeting brain-destroying beta-amyloid fragments. An independent monitoring committee decided that the drug was unlikely to benefit patients compared with a placebo.