Mobile Menu

Genomics Week in Brief: Week Ending 26th April

It’s that time of the week again – check out the latest stories from the genomics world and beyond in Week in Brief.

Promising clinical trial results have been published this week, bringing the reality of genomic and personalised medicine closer for many individuals…

Following positive Phase 2 results, a Phase 3 clinical trial for personalised mRNA vaccines for melanoma has been launched, led by researchers from University College London NHS Foundation Trust (The Guardian).

Additionally, the final clinical trial results for Casgevy, the landmark gene therapy for sickle cell disease, have been published. The overwhelmingly positive results support the prior approval of the drug for clinical use (NEJM).

What’s been going on in the cancer research world this week?

A new study has revealed that some cancers can develop as a result of epigenetic changes only, rather than mutations in the genome itself (Nature).

Mice with a vitamin D-rich diet exhibited enhanced immune responses to cancer, according to a new study. The results also showed that these mice responded better to immunotherapy (Science).

New studies have shed light on neurodegenerative disorders…

A study of hundreds of Parkinson’s disease patients has revealed that individuals with certain genetic variants are more likely to develop the condition after long-term exposure to pesticides (npj Parkinson’s Disease).

A genetic association study has revealed a link between a genetic variant and a rare form of early-onset dementia, known as Pick’s disease. The finding opens potential new treatment avenues (The Lancet Neurology).

And some interesting studies focusing on diabetes have been published…

Researchers have identified several genetic variants linked to type 2 diabetes risk in childhood cancer survivors. The study focussed on multiple ancestries to provide a more accurate picture of risk (Journal of Clinical Oncology).

Lowered placental expression of certain genes has been linked to insulin resistance during pregnancy, contributing to gestational diabetes (Nature Medicine).

What else has been going on this week?

A new Wellcome policy describes steps scientists should take to ensure sustainability in research. This includes detailing plans for recycling and reduced energy consumption in grant applications (Wellcome Sanger Institute).

Scientists have developed a new machine learning tool, AI MARRVEL, to help identify causative variants for Mendelian disorders (NEJM AI).

An interdisciplinary collaboration will see genomics and quantum computing experts come together to tackle the analysis of biological data. (The Wellcome Sanger Institute).

Finally, a metagenomic analysis of skin microflora has revealed new information about the bacteria that cause body odour (JID).

Check out last week’s Week in Brief here.