The main areas of research of the Human Genetics Programme are:
Genetics and genomics of blood cell traits
We are determining the genetic architecture of the broad spectrum of phenotypic variation in blood cell traits seen in hundreds of thousands of healthy individuals. Many common diseases are mediated by blood cells, and we are using our understanding of this genetic architecture of healthy variation to determine the biological mechanisms underpinning thousands of genetic associations for these diseases.
Integrated genomics of inflammation and immunity
We are using population-scale genetics and cellular genomics at scale to identify and characterise genetic associations with immune-mediated diseases. By integrating genetic data with rich health record data we identify genetic associations with disease progression and drug response, as well as with disease susceptibility. We are also using genetics and functional genomics to understand how and why there is substantial variation between individuals in how the immune system responds to challenges. Our research identifies potential new drug targets for treating immune-mediated diseases.
Causes, mechanisms and reversibility of developmental disorders
We are characterising the genetic architecture of rare, severe, developmental disorders through genome-wide sequencing and genotyping, and integrating studies in cells and mice to support inferences of causality, provide insights into disease mechanisms and highlight potential therapeutic opportunities. We are particularly interested in the influence of biological (e.g. germline mutation) and demographic (e.g. parental relatedness) factors on the risk of suffering from such disorders.
Genetic factors influencing fundamental cellular phenotypes
We undertake large-scale screens of fundamental cellular phenotypes in iPSCs (induced pluripotent stem cells) with diverse genetic backgrounds to measure and map the impact of genetic background on these phenotypes. We also use these methodologies to understand how cells respond differently to perturbation by genetic variants that cause disease (e.g. Mendelian disorders). These analyses will help us understand why some people are resilient to highly damaging genetic variants, while others are not.
Associated Research Programmes
The Human Genetics Core Research Programme collaborates with two of the Institute’s Associated Research Programmes: Health Data Research UK (HDRUK) and Open Targets.
Genomics of inflammation and immunity
The goal of our research is to use high-throughput screens to gain causal insights into the biological basis of human disease, ...
Using outbred genetic variation to understand basic biology
DNA sequence remains at the heart of molecular biology and bioinformatics. The Birney Associate Faculty Research Group at the Sanger ...
Health Data Research UK Cambridge Hub
The Danesh group works as part of the Health Data Research (HDR) UK Cambridge site, using genomic, molecular and electronic ...
We combine genomic analysis with clinical data to understand how genetics contributes to the variation between patients in their disease ...
Human Genetics Administration
The Human Genetics Administration comprises a five strong team that provides comprehensive support for the smooth running of the Human Genetics ...
Human Genetics Informatics (HGI)
Human Genetics Informatics (HGI) supports the scientific aims of the Human Genetics programme by developing and operating computational analysis workflows, managing ...
Genomic mutation and genetic disease
The Hurles group studies the genetic causes and mechanisms of rare genetic disorders and how DNA mutates as it is pass ...
Medical and population genomics
We analyse large-scale genetic and electronic health record data to explore fine-scale population structure, its impact on disease risk, and the ...
Non-coding RNA and epigenetics
We are interested in all aspects of gene regulation by non-coding RNA. Current research themes include: miRNA biology and pathology, miRNA ...
Function of human DNA and its variation
Our goal is to understand how genetic background influences outcome of mutations. To do so, we measure, model, and modulate cell ...
Human Complex Traits
Our research focuses on the application of large-scale genomic analysis to unravel the spectrum of human genetic variation associated with ...
The Trynka group combines experimental and computational approaches to study how genetics control the immune system and predispose individuals to autoimmune ...
The Barrett team studied how genetic variation affects risk for diseases, and finds ways to apply that knowledge to improve ...
Metabolic disease group
We are a multidisciplinary team that combines large-scale genetic and genomic approaches, and studies in model organisms, to understand the ...
Global Health and Populations
At the Sanger Institute, our research focused on global health and populations, assessing human diversity and its impact on the ...
Sequence Variation Infrastructure
We developed algorithms and technologies that enable researchers to discover and share genetic variation using next-generation sequencing technologies. We were ...
This group consists of manual annotators and software developers. The HAVANA team provides the manual annotation of human, mouse, zebrafish ...
Deciphering Developmental Disorders (DDD)
The aim of the Deciphering Developmental Disorders (DDD) Study is to advance clinical genetic practice for children with developmental disorders by ...
Genes and Health
Genes & Health is one of the world’s largest community-based genetics studies, aiming to improve health among people of Pakistani ...
Genomics England is a company wholly owned by the UK government, tasked with delivering genomic medicine in partnership with the ...
Health Data Research UK
Health Data Research UK (HDR-UK) is the national institute for health data science. HDR-UK is uniting the UK’s health ...
International Common Disease Alliance
The International Common Disease Alliance (ICDA) aims to improve prevention, diagnosis, and treatment of common diseases by accelerating discovery from ...
Prenatal Assessment of Genomes and Exomes (PAGE)
The PAGE study is striving to gain a better understanding of genetic variants causing developmental problems during pregnancy. The ultimate ...
UK Inflammatory Bowel Disease Genetics Consortium
The UKIBD Genetics Consortium (UKIBDGC) comprises clinicians and scientists with a track record of successful collaborative research in the genetics ...
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