A new database reveals how DNA mutations trigger genetic diseases

Scientists have created a mega-database revealing how half a million different DNA mutations generate errors in proteins in humans.

- EMILY COOKE

The researchers hope that the database will be used to develop new, personalised drugs that directly reverse the mutations' effects. The human genome carries instructions for at least 20,000 proteins, which are essential for nearly all physiological processes. Each building block of a protein, called an amino acid, is key to its function, and thus swapping around the amino acids can essentially break a protein.

'Missense' mutations – changes in a DNA sequence that swap one amino acid for another – in nearly 5,000 human proteins are known to cause genetic diseases such as Huntington's disease and cystic fibrosis. However, in many cases it’s not entirely clear how these mutations affect the structure and function of proteins and thus cause disease. Without this understanding, it’s tricky to develop targeted treatments for genetic disorders without altering the genome itself.