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Programme

Human Genetics

Overview

The Human Genetics Programme is driving a step-change in our understanding of genetic causes and biological mechanisms of disease susceptibility and progression, focusing on developmental disorders and diseases of the blood and immune system. We integrate population-scale genetics, longitudinal clinical data, and large-scale genetic perturbation studies in cellular model systems. We aim to transform the clinical utility of human genetic variation.

Related groups

 

Science group

Anderson Group

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, ...
 

Science group

Birney Group

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 ...
 

Science group

Danesh Group

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 ...
 

Science group

Davenport Group

Functional Genomics

We combine genomic analysis with clinical data to understand how genetics contributes to the variation between patients in their disease severity ...
 

Science group

Human Genetics Administration

Human Genetics

The Human Genetics Administration comprises a five strong team that provides comprehensive support for the smooth running of the Human Genetics ...
 

Science group

Human Genetics Informatics (HGI)

Human Genetics

Human Genetics Informatics (HGI) supports the scientific aims of the Human Genetics programme by developing and operating computational analysis workflows, managing ...
 

Science group

Hurles Group

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 ...
 

Science group

Lehner Group

Programmable biology

We seek to lay the foundations for programmable biology. By combining genomics, biophysics, mechanistic modelling and artificial intelligence at scale, we ...
 

Science group

Martin Group

Medical and population genomics

We analyse large-scale genetic and phenotype data to explore the genetic architecture of rare and common diseases and related quantitative traits. ...
 

Science group

Miska Group

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 ...
 

Science group

Parts Group

Understanding human DNA function by engineering

Our goal is to mechanistically understand impact of mutations in human DNA. To do so, we engineer DNA variation in cells, ...
 

Science group

Soranzo Group

Human Complex Traits

Our research focuses on the application of large-scale genomic analysis to unravel the spectrum of human genetic variation associated with cardiometabolic ...
 

Science group

Trynka Group

Immune Genomics

The Trynka group combines experimental and computational approaches to study how genetics control the immune system and predispose individuals to autoimmune ...
 

Science group

Barrett Team

Medical Genomics

The Barrett team studied how genetic variation affects risk for diseases, and finds ways to apply that knowledge to improve ...
 

Science group

Barroso Group

Metabolic disease group

We are a multidisciplinary team that combines large-scale genetic and genomic approaches, and studies in model organisms, to understand the ...
 

Science group

Sandhu Group

Global Health and Populations

At the Sanger Institute, our research focused on global health and populations, assessing human diversity and its impact on the ...
 

Science group

Sequence Variation Infrastructure

Human Genetics

We developed algorithms and technologies that enable researchers to discover and share genetic variation using next-generation sequencing technologies. We were ...
 

Science group

Tyler-Smith Group

Human evolution

We study variation in the DNA of people from different parts of the world, and also in related species such as ...
 

Science group

Vertebrate Annotation

Human Genetics

This group consists of manual annotators and software developers. The HAVANA team provides the manual annotation of human, mouse, zebrafish and ...
 

Science group

Zeggini Team

Analytical Genomics of Complex Traits

Our research aimed to help identify the genetic determinants of complex human traits by using next-generation association studies to detect ...

Related Faculty

 

Board of Management, Faculty

Dr Carl Anderson

Carl is a statistical geneticist interested in using genetic and genomic data to further our understanding of common complex diseases. He ...
 

Faculty

Dr Emma Davenport

Emma Davenport's research focuses on integrating functional genomics and clinical data in order to understand how genetics contributes to the ...
 

Faculty

Professor Matthew Hurles

Matthew Hurles is Director of the Wellcome Sanger Institute and leads a research group focused on deciphering the genetic causes of ...
 

Faculty

Professor Ben Lehner

I am seeking to lay the foundations for programmable predictive biology by solving some of biology's most intractable problems. By ...
 

Faculty

Dr Hilary Martin

Hilary's work focuses on the analysis of high-throughput sequence and genotype data from large cohorts to address various medical and ...
 

Faculty

Dr Leopold Parts

Leo aims to understand genomes by engineering DNA variation in cells, measuring its impact to assay outputs, and quantitatively modeling the ...
 

Faculty

Dr Gosia Trynka

Gosia leads the immune genomics group who study how human genetic variation impacts immune system and predisposes to development of autoimmune ...

Related Associate Faculty

 

Associate Faculty

Prof Nicole Soranzo

Nicole studies how the human genome influences the risk of common diseases in the general UK population.

Related International Fellows

 

International Fellow

Dr Annettee Nakimuli

Annettee Nakimuli is a leading maternal health researcher based in Uganda, focused primarily on investigating the aetiology, treatment, prevention and long ...

Related Honorary Faculty

 

Honorary Faculty

Dr Helen V Firth

Helen Firth is a Consultant Clinical Geneticist at Cambridge University Hospitals Trust. Since 2004, Helen has collaborated with researchers at the ...
 

Honorary Faculty

Dr Tim Raine

Dr Tim Raine is a practising clinician with an interest in inflammatory bowel diseases (IBD) and mucosal immunology. His research is ...

Associated research

 

Collaboration

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 ...
 

Collaboration

Genes and Health

Genes & Health is one of the world’s largest community-based genetics studies, aiming to improve health among people of Pakistani and ...
 

Collaboration

Genomics England

Genomics England is a company wholly owned by the UK government, tasked with delivering genomic medicine in partnership with the NHS. ...
 

Collaboration

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 data ...
 

Collaboration

HipSci

Hundreds of induced pluripotent stem cell lines for cellular genetic analysis
 

Collaboration

International Common Disease Alliance

The International Common Disease Alliance (ICDA) aims to improve prevention, diagnosis, and treatment of common diseases by accelerating discovery from genetic ...
 

Collaboration

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 aim ...
 

Collaboration

Project Jaguar

Mapping diversity of South America on single cell level
 

Collaboration

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 ...
 

Collaboration

UK10K Project

The UK10K project enabled researchers in the UK and beyond to better understand the link between low-frequency and rare genetic changes, ...
 

Collaboration

BLUEPRINT - A BLUEPRINT of Haematopoietic Epigenomes

The BLUEPRINT Project is a five-year project to further the understanding of how genes are activated and repressed in healthy and ...

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