Finding cures for children's genetic diseases


The Proteome

Most people have heard of the Genome – which is the sum total of all of our genes. The Human Genome Project analysed the entire human DNA code in order to gain insights into the changes that cause variation and diseases. The technology for "reading" the genome is now well established, and its application to cancer and other diseases has greatly increased our understanding of why they occur. However, understanding the genome is not enough.

The sum total of all of the proteins inside a cell is called the Proteome.

The information in DNA is used by cells to produce RNA, and many RNA molecules code for proteins.  Some proteins help form the structure of cells and others are the miniature machines inside cells that do the work required for maintaining life, such as converting sugar into energy, and for helping a cell to grow and divide to produce more cells. So proteins are vitally important.  

The proteome of each type of cell consists of thousands of different types of proteins. Each protein behaves differently, working with other proteins in intricate networks.

Proteomics is the study of the proteome, and it depends on rapid analysis of the proteins in our cells and tissues on a large scale - thousands at a time. It uses mass spectrometry, a powerful analytical technique for identifying proteins and measuring the quantity of each type of protein that is present.

Most of the drugs used to treat diseases such as cancer interact with proteins, so cancer proteomics is an important new frontier in cancer research. Knowing what proteins are present in cancers is essential for developing new cancer treatments and for using existing treatments as effectively as possible.