Welcome back to Week in Brief, your stop for the latest news from the genomics world and beyond!
New tests could help to predict cancer prognosis…
Scientists have developed a test that measures circulating tumour DNA (ctDNA) levels and uses this data to predict cancer prognosis. The study showed that lung cancer patients with low levels of ctDNA prior to surgery had better overall outcomes than individuals with higher levels (Nature Medicine).
Additionally, a test that assesses gene expression across tumours has been seen to predict lung cancer survival at diagnosis better than current methods. These tests could lead to the implementation of tailored, and more effective, therapies (Nature Cancer).
Scientists have elucidated the genetic causes of several conditions…
An investigation in mice has revealed a genetic cause for a common form of hearing loss found in individuals with Down syndrome (eLife).
A study has shown that protein destabilization resulting from missense variants is the primary driver behind many inherited conditions. These include neurological and developmental disorders (Nature).
New research suggests that antiviral proteins that form part of the body’s immune system could be the driving force behind the DNA damage that leads to Huntington’s disease and other repeat expansion disorders (PNAS).
New tools and tech have been in the news…
An updated genome assembly of the common laboratory rat has been published. The new data reveals of over 1,000 new protein coding genes and is more precise than its predecessors (Genome Research).
Researchers have successfully engineered two CRISPR nucleases to evade the immune system, avoiding responses to the bacterial proteins. This could lead to the development of safer, more effective gene editing strategies for human disease (Nature Communications).
What else has gone on this week?
Last week, UK Biobank announced the launch of the most comprehensive study of human proteins to date. The project aims to characterise thousands of circulating proteins in over 600,000 samples, transforming healthcare and diagnostics (UK Biobank).
A study has revealed that almost half of the variation found in kidney cancer is due to non-genetic factors. This opens up potential new treatment avenues for the disease (Cancer Discovery).
Last year, 15 genes were identified that were thought to effectively predict risk of opioid use disorder. Now, research has shown that tests using this data produce both false positives and false negatives, calling into question the reliability and efficacy of these tests in clinical settings (JAMA Network Open).
Finally, a recent study has shown that intratumoral heterogeneity is a cause of drug resistance in EGFR-mutant lung cancers, with resistant cells altering the microenvironment. The work suggested that this can be combatted through combination therapies (Nature Communications).
Check out last week’s Week in Brief here.
