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Genomics Week in Brief: Week Ending 12th April

It’s been an exciting week in the genomics world, and we’ve summarised the recent news so you can see it all in one place. Check out the latest Week in Brief below.

Yesterday was World Parkinson’s Day, and a number of insightful research papers were published…

A hypothesis-based article expands on the long-standing theory that Parkinson’s disease arises in either the nose or gut, due to the ingestion or inhalation of environmental toxins (Journal of Parkinson’s Disease).

Researchers have discovered a novel genetic variant that is linked to the onset of Parkinson’s disease and sheds new light on the development of the condition (The Lancet Neurology).

Scientists have characterised the glycan molecules in the brain that are linked to Parkinson’s disease, driving forward potential new therapies that target these molecules (PNAS Nexus).

There were updates in the cancer research space…

By assessing the immune cells in the tumour microenvironment, researchers have identified four subtypes of environment that could be used to predict disease progression and treatment prognosis (Cancer Discovery).

A protein has been identified that regulates memory in CAR T cells and makes them more durable. This finding could make CAR T cell therapies for cancer more effective (Nature).

Researchers have characterised the bacteria living in cancer metastases, in a large-scale analysis of over 4,000 tumours. The presence of certain bacteria was linked to various outcomes, including treatment response (Cell).

Researchers have investigated drug utility and repurposing in genetic disease…

Results of a recent trial show that the drug Ivacaftor, the first drug to directly treat the defect that causes cystic fibrosis, is safe and effective for use in babies as young as four-weeks old. The drug is currently approved for use in infants from four months old (Journal of Cystic Fibrosis).

Another recent clinical trial has shown that a drug currently used to treat pulmonary arterial hypertension may be effective at treating some of the symptoms of sickle cell disease (The Lancet Haemotology).

What’s been going on in the AI field?

Scientists have developed a machine learning method to identify the spatial location of chromosomes within the nucleus (Nature Methods).

A new generative AI tool has been developed that models the infant microbiome. The so-called ‘digital twin’ provides new insights into the dynamics of the infant gut microbiota and the impact on neurodevelopment (Science Advances).

And that’s not all we’ve got for you…

Researchers have identified genetic variation linked to persistent HPV infection and subsequent cervical cancer risk (European Journal of Human Genetics).

A new study has suggested that the practice of genotype imputation works well for highly represented populations in genomics research, but is less effective in other groups (American Journal of Human Genetics).

Check out last week’s Week in Brief here.