An 18th-century drawing of the heart, lungs and arteries

Seeing into the future

Why finding the genes linked to a particular disease is just the beginning of finding a treatment or cure

Once a particular condition is linked firmly to a gene (or several genes), this might lead to a genetic test – perhaps before birth – to assess disease risks. Going beyond that can prove a lengthy effort.

Nevertheless, scientists are considering potential treatments based on naturally occurring genetic variants that cause the loss of a particular function. For example, two studies reported in the ‘New England Journal of Medicine’ in 2014 identified mutations in the APOC3 gene. When working properly, the gene codes for a protein that slows down the removal of triglycerides from the blood. The mutations allow the fat to be eliminated more quickly, lowering the risk of heart attack and stroke.

A 2014 study published in ‘Nature Genetics’ found that people with mutations that destroyed the function of the SLC30A8 gene had a 65 per cent lower risk of developing type 2 diabetes than people without this mutated form. Scientists don’t yet know what the mechanism behind this finding is. Developing drugs that mimic the actions of these mutations could help us in the battle against cardiovascular disease and diabetes.

Lead image:

An 18th-century drawing of the heart, lungs and arteries.

Wellcome Library, London CC BY


Further reading

About this resource

This resource was first published in ‘Genes, Genomes and Health’ in January 2010 and reviewed and updated in December 2014.

Genetics and genomics, Medicine, Health, infection and disease
Genes, Genomes and Health
Education levels:
16–19, Continuing professional development