By using genome-scale approaches, Sanger Institute researchers and their partners are making significant contributions
to important problems in global health
Genomics has had a major impact on our understanding of health and disease. Applying genomic tools to global health
issues has long been a feature of research at the Sanger Institute, beginning with key contributions to the reference
genomes for two of the biggest global infectious disease killers, Mycobacterium tuberculosis, the cause of TB,
and Plasmodium falciparum, the cause of the majority of malaria mortality. The sequencing and production of
reference genomes for important but often neglected tropical diseases such as schistosomiasis remains a priority of
research at the Sanger Institute.
For other infectious diseases where the reference genome of the pathogen has already been generated, scientists are
using new technologies to sequence hundreds and thousands of pathogen DNA samples collected from infected individuals
around the world. This approach, sometimes referred to as genomic epidemiology, has many exciting applications,
including identifying the origin and tracking the spread of drug resistant malaria parasites, understanding the global
spread of diseases such as cholera, and measuring the consequences of introducing vaccines in endemic environments such
as the pneumococcal vaccines in Asia and Africa. These same sequencing technologies are also being applied to
understand the global patterns of human evolution, and to perform genome-wide association studies of diseases such as
malaria, trachoma, sickle cell and diabetes. Genomic approaches are not restricted to DNA sequencing, and Sanger
Institute researchers are also using high throughput techniques including experimental genetic manipulation, screening
cellular phenotypes and analysis of protein-protein interactions, to understand the biology of diseases of global
health significance.
A few more detailed examples from the broad range of global health research projects currently being undertaken at the
Sanger Institute are listed below.