Human Genetics

The Human Genetics programme focuses on the genetic basis of disease and other important biological traits.

A better understanding of the nature and origins of human genetic variation is allowing us to probe ever more deeply into the genetic basis of both common and rare disease susceptibility. This work is pointing the way to possible new treatments and novel diagnostic approaches, as well as shedding light on human evolution.

  • Projects - a list of Faculty-led research projects in Human genetics
  • Collaborations and resources - a list of collaborations and resources in Human genetics in which the Sanger Institute plays a leading role

[Wellcome Library, London]


* Analytical genomics of complex traits
Eleftheria Zeggini's group aims to help identify the genetic determinants of complex human traits by using next-generation association studies to detect novel disease loci
* Cancer genome project
Mike Stratton, Peter Campbell and Ultan McDermott use sequence and high-throughput mutation detection to identify genes critical in the development of cancers
* Genetic epidemiology
Manj Sandhu's team explores genomic diversity and its impact on infectious and cardiometabolic risk factors among populations
* Genetics of common neurological diseases
Aarno Palotie's team identifies genes and variants contributing to neurological diseases to better understand pathogenic mechanisms
* Genomic mutation and genetic disease
Matt Hurles' team aims to elucidate the genetic architecture of developmental disorders, and characterise mutation processes in mammalian genomes
* Genomics of inflammation and immunity
Carl Anderson's team aims to understand common human disease by identifying and characterising mutations underlying disease susceptibility
* Genomics of quantitative variation
Nicole Soranzo's team uses quantitative intermediate traits to unravel novel mechanisms underlying common, complex diseases
* Human evolution
Chris Tyler-Smith's team investigates genetic variation in apes and humans to understand our evolutionary past and its implications for our current health
* Maintenance of genome stability
Steve Jackson's associate faculty group focuses on understanding how cells detect, signal the presence of, and repair DNA damage
* Medical genomics
Jeffrey Barrett's team elucidates the genetic basis of common human disease using statistical and computational approaches
* Metabolic disease group
Inês Barroso's team identifies genes linked to type 2 diabetes and obesity to better understand the aetiology of the diseases
* Molecular cytogenetics
Nigel Carter's team aims to detect rare structural changes in chromosomes to understand the causes of certain inherited disorders
* Pre-cancer
Phil's group explores how mutant epithelial stem cells evolve into tumours using sequencing, transgenic models and biophysical analysis
*Regulatory evolution in mammalian tissues
Duncan Odom's Associate Faculty group compares how transcription and transcriptional regulation vary during evolution, and the implications this regulatory plasticity has for diseases such as cancer
*Signatures of mutagenesis in somatic cells
Serena's group explores patterns of mutations or signatures that arise in human cells to understand how DNA damage and DNA repair processes contribute towards aging and cancer
*Single-cell genomics
Thierry Voet's Associate Faculty group studies how processes that add additional information to the genome (known as epigenetics) enable reprogramming in stem cells and disease.
* Translational cancer genomics
Mathew Garnett's group investigates how genetic alterations contribute to cancer and impact on cellular responses to anti-cancer medicines

Collaborations and resources

* 1000 Genomes Project
Sequences the genomes of a large number of people, to provide a comprehensive resource on human genetic variation
* arcOGEN
Aims to find genetic determinants of osteoarthritis and elucidate the genetic architecture of the disease
Aims to genetically characterise the most common class of breast cancer (known as ER+, HER2-)
* Bloodomics
Aims to discover genetic markers for the prediction of thrombus formation and to design better anti-thrombotics for improved prevention and treatment
* Cardiogenics
Aims to discover genetic variations leading to coronary artery disease, thereby uncovering the underlying disease mechanisms and helping to develop new treatments
* Copy Number Variation project
Investigates gains and losses of large chunks of DNA sequence to understand the contribution of CNV to the common, complex diseases
Stores and displays somatic mutation information and related details, and contains information relating to human cancers
Collects and displays clinical information about chromosomal microdeletions, duplications, insertions, translocations and inversions
* Deciphering Developmental Disorders (DDD)
Advances clinical genetic practice for children with developmental disorders by applying the latest microarray and sequencing methods while addressing key ethical challenges
Aims to identify all functional elements across the entire human genome sequence and annotate evidence-based gene features at a high accuracy
* Ensembl genome browser
Produces genome databases for vertebrates and other eukaryotic species and makes this information freely available online
* Genome analysis pipelines
The pipelines are dedicated to high-throughput sample logistics, genome-wide data generation, PCR target preparation for re-sequencing, genotyping, data quality control, analysis and storage
* Genome Reference Consortium (GRC)
Aims to ensure that the human, mouse and zebrafish reference assemblies are biologically relevant by closing gaps, fixing errors and representing complex variation
* International HapMap Project
Describes common patterns of human DNA sequence variation and helps researchers to identify genes affecting health, disease, and responses to drugs and environmental factors
* International Serious Adverse Events Consortium
Aims to identify DNA-variants useful in predicting the risk of drug-related serious adverse events
The HAVANA group provides the manual annotation of human, mouse, zebrafish and other vertebrate genomes that appears in the Vega browser
* InterAct
Discovers how genetic and lifestyle behavioural factors interact to influence the risk of type 2 diabetes and investigates how to prevent development of the condition
* International Cancer Genome Consortium
Aims to obtain comprehensive descriptions of genomic, transcriptomic and epigenomic changes in tumor types and/or subtypes of importance across the globe
*Sanger Institute-EBI Single-Cell Genomics Centre
Explores the DNA, RNA and epigenetic features of single cells in order to better understand normal biology and disease
* Scat (Bone Cancer Trust)
Aims to sequence osteosarcoma genomes in order to identify new osteosarcoma cancer genes and develop new clinically applicable strategies for monitoring of patient disease burden
Looks at genetic variation in the human population and the role this plays in disease susceptibility
* UK10K
Aims to understand the link between low-frequency and rare genetic changes, and human disease by studying the genetic code of 10,000 people
* quick link -