Cellular genetics

The Cellular Genetics programme explores the way in which natural variation in the genome affects how human cells function in health and in disease. The results help researchers to understand disease processes.

The programme makes use of human induced pluripotent stem (iPS) cells to follow the effects of genome variation on the development of tissues and organs in the body. Human iPS cells are derived from mature tissue, such as skin or blood, by introducing the expression of a specific set of 'reprogramming factors'. These force the adult cells to revert to a pluripotent state, giving them the ability to develop into almost every cell type in the body.

Our researchers are developing stem cell resources, such as human iPS cells from thousands of apparently healthy people and specific patient groups, and are using these (and other) cell resources to examine cellular activity to better understand biology in health and disease.

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

[Genome Research Limited]


*Engineered stem cell mutation resources
Creating a research resource of mouse embryonic stem cells and human induced pluripotent stem cells in which both copies of a single gene have been inactivated
*Human iPS cells in health and disease
Developing a resource to examine genes in health and disease by deriving iPS cell lines from 700 apparently healthy donors and 800 patients
*Genome variation and cellular phenotype
Examining genetic and epigenetic variation in human, mouse and pathogen genomes and its consequences for gene activity


*Pancreatic genetics
Ludovic Vallier's group investigates identifies signalling and regulation networks controlling pancreas development and their involvement in metabolic disorders
*Single-cell genomics
Thierry Voet's group studies how processes that add additional information to the genome (known as epigenetics) enable reprogramming in stem cells and disease.
*Stem cell engineering
Bill Skarnes' laboratory is exploiting new genome-editing technology for the study of gene function and disease modelling in human stem cells
*Stem cell genetics
Kosuke Yusa's team develops novel genetic engineering technologies in ES and iPS cells for genetic screening and healthcare therapies

Collaborations and resources

HipSci brings together genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it in cellular genetic studies
*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
* quick link - http://q.sanger.ac.uk/gaijryhb