Happy new year and welcome back to Week in Brief! What better way to kick off 2025 than by catching up with the latest genomics news?
Gene therapy has been making headlines…
New research has revealed new ways to optimise the delivery of gene therapy products to the kidney using AAV vectors (Nature Communications).
A gene therapy has been developed to treat a rare form of anaemia – X-linked sideroblastic anaemia. The first treatment of its kind for this condition, the researchers hope it could have an impact for patients with a range of other diseases (Blood).
New cancer treatments are on the horizon…
Researchers have discovered that a defects in a gene typically linked to cancer progression can also play a protective role against oesophageal cancer. This unexpected finding could help to predict patient outcomes and appropriate treatments (Nature Cancer).
Scientists have developed a method to silence cancer-causing mutations by using a CRISPR-based approach to degrade RNA. The method leaves other, healthy genes intact, and could provide a new avenue to target genes that current drugs have been unable to reach (Science Advances).
A new biomarker has been found, which could explain the higher incidence of aggressive breast cancer in women of colour. This biomarker could be used as a treatment target or predictor of disease (EMBOreports).
Using a digital twin approach, researchers have developed a technique that can treat colon cancer cells by switching their trajectory to a state resembling a healthy cell. This technique could reduce side effects associated with traditional treatments, as it does not require the cells to be killed (Advanced Science).
Scientists have gained a better understanding of evolution…
The development of a new analysis technique for ancient DNA has led to a better understanding of migration patterns across Europe in the first millennium AD (Nature).
New research has revealed that the inactivation of the maternal or paternal copy a gene is a more common phenomena than previously thought. In immune cells, the researchers saw that around 1 in 20 utilised genes silenced one copy of the parental alleles, possibly explaining why some individuals who harbour disease-causing mutations do not suffer from the condition to the same extent as others (Nature).
What else has gone on this week?
Scientists have generated the first human stem cells models that contain notochord – a tissue that acts as a GPS system in developing embryos, directing the growth of the spine and nervous system. This is a significant step forward in the use of lab-generated models in research (Nature).
A study has shown that a gene on the X-chromosome, which is involved in brain development and function, is in fact linked to autism. Autism-associated mutations in this gene were typically found in males (AJHG).
Finally, an atlas of the brain of multiple sclerosis patients has been published. The work, the result of an international collaboration, could lead to new personalised therapies for the condition (Neuron).
Check out last week’s Week in Brief here.
