Tuberculosis (TB) remains an EU and global healthcare priority resulting in over 1.4 million deaths each year. Despite this and efforts to reduce TB by the EU commission, the WHO and others, a simple, rapid, diagnostic test for active tuberculosis (TB) remains elusive. Current diagnostic procedures, while accounting for over $1 bn globally, are poorly selective for active TB, hold risks for healthcare personnel, are slow to yield results and costly. The large potential and high unmet need provide a clear target for commercialisation of a point-of-care (POC) test. Using over 400 clinical samples, ProteinLogic (a UK based diagnostics company) have demonstrated proof of concept for a ground-breaking approach using a panel of protein biomarkers on human serum samples that profile the cell mediated patient response to TB. The objectives of the eight structured work packages within this three year project are to build on the validation of the biomarker TB panel transitioning from a laboratory assay to Biosensia’s novel microfluidic POC platform that has already been successfully proven with a variety of human analytes. Reagents will be developed as part of this project to ensure reduced costs and security of commercial supply. A unique instrument reader plus TB cartridge-based product will be developed to meet EU regulatory standards. The products will be validated in order to confirm analytical and clinical performance, and to provide evidence of major time, cost & performance improvements compared to current TB testing practises. Successful commercialisation will lead to the creation of over 30 new jobs and will stimulate further private investment in each of the companies. In summary, ADVANTAGE has the potential to deliver a disruptive POC TB diagnostic test that can help eradicate the massive TB burden not only in EU but also globally.

Cancer sequencing studies have extensively investigated the landscape of somatic mutations that drive tumor development, however the importance of germline variation for cancer susceptibility has been neglected. We hypothesize that for cancer types affecting a large proportion of the population, a shared set of genes with variants of different levels of penetrance leads to the clinical phenotype. While rare germline variants are not interrogated by array-based genome-wide association studies (GWAS), these can be effectively studied by whole-genome or whole-exome sequencing. Here, we propose in-depth pan-cancer analyses, which will be implemented as part of the International Cancer Genome Consortium (ICGC) initiative, as a model to develop and apply the necessary bioinformatics tools and pipelines to fully exploit the cancer-genome datasets, and to harness the diagnostic power of genome sequencing in day-to-day clinical practice. Our proposal addresses the full chain of computational and statistical tools that are needed for clinically relevant diagnosis and intervention, including discovery in large cohorts, validation of putative causal sites in model systems and development of targeted cancer-risk panels. The consortium combines complementary expertise to extend the computational discovery of novel variants that influence cancer susceptibility to intergenic and regulatory variants; to integrate genomic, molecular phenotype, biomarker and clinical data; and to develop novel statistical methods for variant association and eQTL analysis. The project will deal with essential aspects on how data are collected, stored, organized, integrated, analyzed and exploited in cancer genetic clinics. We aim to provide a concerted, cross-disciplinary framework for a better understanding, integration and use of cancer clinical data in the evaluation of the multitude of genetic variants and mutations involved in cancer susceptibility, for the direct benefit of cancer patients.

There were an estimated 8.8 million new cases of TB in 2010 and an estimated 1.4 million deaths, making this disease one of the world's biggest infectious killers. It is estimated that 1/3 of the global population is infected with latent disease. Disease transmission occurs primarily via droplets from coughing and sneezing. Early diagnosis and treatment of infective cases is key to preventing the spread of TB. ProteinLogic have established a unique protein ‘signature’ which can discriminate infectious cases from latent carriers of the disease. To become commercially competitive this signature requires further validation. This project aims to identify additional markers which can contribute to the acceptability of the test. This project will enable ProteinLogic to refine the test & check feasibility on clinical samples as a critical step towards the goal of introducing a test that could save millions of lives.

Awaiting Public Project Summary