Happy Monday everybody! It’s time for your weekly roundup of the latest genomics news – take a look at what we have for you below.
Exciting updates have been published in the cancer research space…
Over 40,000 individuals have had their exomes sequenced in order to identify carriers of hereditary breast and ovarian cancer and Lynch syndrome. Researchers identified over 550 carriers, many of whom were newly diagnosed, suggesting that genetic screening should be extended to allow for earlier intervention (JCO Precision Oncology).
Researchers have identified a tumour-suppressive role of a molecule, HNFA4, in pancreatic cancers. Epigenetic regulation of HNFA4, leading to decreased expression, is a significant driver of disease (Gastro Hep Advances).
A new study has elucidated the mechanisms underpinning cell cycle arrest when a patient is taking anticancer drugs, and the reasons why cells continue to proliferate in some individuals (PNAS).
Viral infections have been in the news…
Llama-derived nanobodies have shown potential in the treatment of HIV, with the results of a recent study showing that these molecules can effectively target and neutralise HIV-1 (Advanced Science).
Researchers have identified a secondary pathway that flu viruses can use to infect cells, which could aid the pathogens in jumping across species (Nature Microbiology).
According to a new study, around 2% of the population develops autoantibodies against type 1 interferons – a key component of the immune system – during their life. This leaves these individuals more susceptible to viral infection (JEM).
Are we getting closer to new treatments for muscular dystrophies?
Scientists have utilised a trans-splicing mechanism to allow large dystrophins to be packaged into a series of adeno-associated vectors and used in gene therapies. This has led to the development of a potential therapy for muscular dystrophy (Nature).
Researchers have developed a new method of non-invasive prenatal genetic testing to identify maternal copy number variants associated with Duchenne muscular dystrophy (Clinical and Translational Medicine).
What else has gone on this week?
A recent study describes strategies to correct the mutations that cause CARASIL – a rare genetic disorder that can trigger strokes (Nature Communications).
The role of a gene involved in the regulation of food intake and obesity has been outlined in a recent study, which highlights the areas of the brain impacted by the gene (Advanced Science).
A large-scale study using data from the Million Veteran Program has highlighted the importance of diversity in genomic datasets. Around a third of the individuals included in this dataset are from diverse backgrounds, and this study has identified over 26,000 genetic associations (Science).
Check out last week’s Week in Brief here.
