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IMPC: Connecting genes with disease

What is the IMPC?

Over a decade has passed since the Human Genome Project was completed, yet the function of most genes still remains a mystery. Just as you must know the meaning of words to read a book, we need to know the function of genes before we can truly understand the mammalian genome. Only then can we hope to discern the role of genes in disease and use this to improve treatments.

This is why the IMPC is producing a database of the defining characteristics, or phenotypes, of mice that lack a particular gene. Since mice share over 95% of their genes with humans, studying gene functions in mice can tell us a great deal about what goes on in people.   

For each gene, a ‘knockout’ mouse line is generated that lacks a functional copy of that gene. All mice are bred from the same strain and go through the same series of pre-defined tests to identify any abnormal traits, such as a heart defect, muscle disorder or hearing loss. This can then be used to determine how the gene normally functions, and how mutations which alter the function of that gene could play a role in human disease.

How is MRC Harwell involved?

The IMPC, launched in 2011, consists of 18 research institutions from North America, Europe, Asia and Australasia. Together, these centres are systematically recording the functions of every protein-coding gene in mice. All of the data is made available for free on the IMPC website, where it is possible to search by gene, phenotype or human disease. Researchers can order IMPC mouse strains that share features of a human disease, and if a gene is not currently on the website, can register their interest to receive updates when new data becomes available.

At MRC Harwell we use mice to study the relationship between genes and disease, developing mouse models for the study of disease processes that occur when a gene goes wrong. We are a key member of the IMPC, acting as the central data coordination centre, where the data from all the centres is checked and combined. We play a crucial role in producing and phenotyping IMPC mice, and have a special MRC Mouse Network of about 350 research labs based in the UK, who nominated our initial list of genes to focus on and continue to work closely with us. Our research is diverse, spanning disciplines from development to ageing, and MouseBook provides free access to data from our large-scale study to find genes involved in ageing and related disease.

How can the IMPC benefit research into human disease?

The IMPC will aid research into a vast range of conditions, including rare diseases. By comparing IMPC mouse phenotypes with existing data on human disease, a list of genes potentially involved in each disease has been created and can be found on the IMPC website. This is intended for research groups interested in discovering more about the genetic basis of these conditions.

One of the main benefits of the IMPC is that it does not focus on any one particular disease. Instead it takes a relatively unbiased approach, measuring a wide range of different characteristics, which allows it to capture a more comprehensive spread of traits related to gene function than, say, a researcher solely interested in liver disease. This makes the IMPC particularly useful for research into rare diseases, and provides an invaluable, freely available tool for rare disease charities looking to fund research to improve diagnosis or develop new therapies.

With over 2000 mouse lines now in progress or complete, the IMPC is becoming an important resource for anyone studying the relationship between genes and disease. Combined with the extensive experience of medical charities in their disease areas, it can reach its full potential.

For IMPC mouse strains and data, please visit mousephenoype.org or email IMPC@har.mrc.ac.uk.