AstraZeneca (AZ) researchers have revealed thousands of associations between rare genetic variants and plasma proteins, which could improve future drug discovery research and treatment approaches.

Results from the study were collated using data from over 50,000 individuals in the UK Biobank.

Published in Nature, AZ researchers analysed the effects of rare genetic variants on over 3,000 proteins in the body and identified over 4,400 significant protein quantitative trait loci, which are gene variants associated with protein function essential to health.

Proteins are the functional units of cells, which have a number of important roles throughout the body and are controlled by genes contained on chromosomes.
In comparison to common genetic variants, rare variants produce stronger evidence and unique insights into the connection between genes and proteins and their roles in disease.

More than 75% of the protein quantitative trait loci had never been detected before and provided additional insight to a companion study to analyse common variants in a similar UK Biobank group.

Medicines that target genes or proteins linked to human disease are more likely to deliver clinically meaningful outcomes.

Findings from the study will enhance the ability to understand disease and discover new targets for drug discovery.

Vortex Biosciences has expanded its liquid biopsy research at the London Cancer Hub’s Innovation Gateway to support its next phase of growth.

The announcement follows Vortex’s recent opening of a new laboratory at the London Cancer Hub’s Innovation Gateway in March earlier this year.

Vortex is currently developing a platform designed to use circulating tumour cells (CTCs) to inform personalised therapy development, guide therapy and monitor cancer using 'no touch' microfluidic technology to capture intact, label-free and pure CTCs from blood with high yields.

By analysing these CTCs using downstream workflows, researchers can characterise them to provide access to critical insights from whole cancer cells, which underpin one of the key causes of metastasis, treatment resistance and disease recurrence.

Additionally, Vortex is building a CTC sample-to-answer service proposition for biopharma companies to help develop biomarker-driven personalised medicine, guide therapy decisions and monitor cancer.

Since joining the London Cancer Hub, Vortex has worked alongside existing Innovation Gateway tenants, including Vesynta, Curesponse and the Exercise Clinic.

The London Cancer Hub aims to create the world’s leading ecosystem for cancer research, treatment and commercial enterprise.

Jon Wilkinson, director of business and innovation at the Institute of Cancer Research (ICR), said: “We’re very pleased to see Vortex Biosciences increasing its footprint at the Innovation Gateway.”