Genomic mutation and genetic disease
We use experimental model systems, especially cells, to understand the biology of these conditions in greater detail. We also study how DNA mutates as it is passed from one generation to the next, and the factors that influence the number and type of mutations that arise. We are a multi-disciplinary group of molecular biologists, bioinformaticians and computational geneticists.
Previous team members
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 ...
Genomics England is a company wholly owned by the UK government, tasked with delivering genomic medicine in partnership with the NHS. ...
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 ...
Cellular Generation and Phenotyping
The Cellular Generation and Phenotyping (CGaP) core facility provides central cell biology support to the Sanger Institute, functioning as a contract ...
In collaboration with our colleagues in Cellular Operations and Stem Cell Informatics, our work focuses on supporting and delivering the gene ...
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 ...
The Barrett team studied how genetic variation affects risk for diseases, and finds ways to apply that knowledge to improve ...
Programmes and Facilities
Health Data Research UK (HDR UK)
The Health Data Research (HDR) UK Cambridge site is part of the national institute for health data science (HDR UK) ...
The Human Genetics Programme is driving a step-change in our understanding of genetic causes and biological mechanisms of disease susceptibility and ...
We work with the following groups
The DDD and PAGE studies are funded by the Health Innovation Challenge Fund, a parallel funding partnership between the Wellcome Trust and the Department of Health to stimulate the creation of innovative healthcare products, technologies and interventions and to facilitate their development for the benefit of patients in the NHS and beyond.