Happy Monday! We hope you had a great weekend and are ready to kick off the week with the latest genomics news in Week in Brief.
Neurological conditions have been in the news this week…
A study has revealed that the gene responsible for Huntington’s disease may also be linked to early brain development and human intelligence (The Annals of Neurology).
Some genetic mutations in a gene typically associated with the onset of development disorders may not cause harm, according to a recent study. Instead, some variants may confer protection to some neurological disorders (Genomic Psychiatry).
A newly identified protein variant has been linked to the development of Parkinson’s disease, by facilitating the spread of alpha-synuclein. This variant could guide the development of targeted therapies (Aging Cell).
Cancer research has made headlines…
New research has uncovered how mutations in just one copy of the BRCA1 gene can fuel aggressive breast cancer growth, by disrupting DNA repair mechanisms. This discovery underscores the gene’s pivotal role in tumour suppression and highlights potential therapeutic targets (Nature Genetics).
A novel ‘molecular crowbar’ strategy has been developed to degrade proteins involved in pancreatic cancer. This approach shows promise for targeting previously ‘undruggable’ proteins, offering new avenues for treatment (PNAS).
Disrupting genome architecture has emerged as a potential treatment for aggressive leukemia. Researchers have shown that targeting a protein complex that influences the structural organisation of chromatin can impede the growth of leukemia cells (The EMBO Journal).
Researchers have developed a blood test that could predict resistance to PARP inhibitors to treat ovarian cancer. This could allow for more effective tailored treatments to be offered to patients earlier (Molecular Cancer).
Loss of heterozygosity can enhance the sensitivity of some cells to an already approved cancer drug. This means that some patients will benefit from a personalised approach to treatment (eBioMedicine).
What else has gone on this week?
A new study has shown that genetics can influence dietary preferences. The researchers suggested that an individual’s ability to effectively digest sucrose may impact how much they enjoy sugary foods (Gastroentorology).
A genetic screening platform has identified new vulnerabilities in the bacteria responsible for tuberculosis. Specifically, this vulnerability is present in drug-resistant bacteria, offering new hope for treatment (Nature Communications).
The largest ever genetic study of cataracts–which analysed nearly a million individuals–has revealed over 100 variants associated with cataract risk. These findings shed new light on potential avenues for prevention and treatment (Nature Communications).
Scientists have developed a new gene therapy tool that delivers the genetic payload in two halves that are then ‘stitched’ together in the cell. This means that diseases such as muscular dystrophies, which are caused by defects in very large genes, can be treated using gene therapy (Science).
Check out last week’s Week in Brief here.




