The Health Data Research (HDR) UK Cambridge site is part of the national institute for health data science (HDR UK) and comprises the Wellcome Sanger Institute, EMBL-EBI, the University of Cambridge and its hospitals. HDR UK Cambridge aims to advance understanding of disease prediction, causation, and progression through the integration of molecular data and other intermediate phenotypes with routine clinical data.
HDR UK Cambridge aims to realise novel insights into biology and disease aetiology through integration of information, at scale, on genomics, other biomolecular traits, and high-resolution electronic health records (EHRs)
Teamwork is key – we will share the knowledge we generate through this research with existing major national initiatives which are contemplating or conducting related work. This may include UK Biobank, the 100,000 Genomes Project, NIHR BioResource, Deciphering Development Disorders and the nascent Genomic Medicine Service.
There is major potential to realise novel insights from such bioresources by combining, at scale, innovative bioassays, assessment of other intermediate phenotypes, and linkages with EHRs, and by working across these cohorts to achieve even greater scale, synergy and contrast. A key concept is the increasing ability to anchor inference about the causes of diseases in genomic data from cohorts of populations and patents. This inference involves integrative analyses (e.g., Mendelian randomisation approaches) that can help reveal the temporality and direction of causal effects across layers of biodata, extending from genomes to dynamic high-dimensional traits (e.g. proteins and other components of the “expressed genome”) to organ structure to EHRs. The results from such analyses have the potential to help underpin a shift from disease classification based on pattern of end-organ injury to one based on molecular underpinnings.
The aim of the Deciphering Developmental Disorders (DDD) Study is to advance clinical genetic practice for children with developmental disorders by the systematic application of the latest microarray and sequencing methods while addressing the new ethical challenges raised.
Genomics England is a company wholly owned by the UK government, tasked with delivering genomic medicine in partnership with the NHS. GEL delivered the 100,000 genomes project, with a focus on whole genome sequencing of patients with rare diseases or cancer.
Health Data Research UK (HDR-UK) is the national institute for health data science. HDR-UK is uniting the UK’s health data to enable discoveries that improve people’s lives. By making health data available to researchers and innovators we can better understand diseases and find ways to prevent, treat and cure them.
The INTERVAL trial was a randomised trial assessing how often blood donors can safely give whole blood, in which participants also consented to be part of a bio-resource enabling a broad range of health-related research.
The Danesh group works as part of the Health Data Research (HDR) UK Cambridge site, using genomic, molecular and electronic health record data at population scale to understand disease at a deeper than ever biological level.
Our research focuses on the application of large-scale genomic analysis to unravel the spectrum of human genetic variation associated with cardiometabolic diseases, and its interaction with non-genetic and environmental cues.
The goal of our reseach is to use high-throughput screens to gain causal insights into the biological basis of human disease, identify new drug targets and determine the patients who will benefit most from these drugs. We focus on immune-mediated disease, and inflammatory bowel disease in particular, due to the significant burden of disease and the accessibility of disease relevant tissue.
Gene expression involves the transformation of genetic information encoded in DNA sequence into a gene product, such as a protein. Regulation of gene expression is a fundamentally important process in biology because controlling the timing, location and level of gene expression is critical for the gene product to function correctly. The majority of mutations that alter disease risk for most common diseases are thought affect gene regulation, although how these mutations actually function is not well understood in most cases. Our group uses a combination of statistical and experimental approaches to map mutations that affect gene regulation in humans.