Diabetic Complications

Human Epigenetics

Head – Assam El-Osta

This lab is working hard to understand the behaviour and “misbehaviour” of genes in disease, with a particular focus on diabetes, cancer and chromosomal disorders such as Fragile X syndrome.

Epigenetics is the study of reversible changes in gene function, changes that occur without any mutation in the sequence of the DNA itself. Epigenetics concerns itself with trying to understand how information that regulates gene behaviour but that is not expressed in DNA sequences can be passed on from one generation to the next. Most of the diseases we seek to prevent and cure at Baker IDI have both genetic and environmental causes. Understanding their interaction is a key step in developing our research.

Sam and his team focus on understanding why genes are “switched on” or “switched off” in certain diseases. His research in this area began with looking at what happens to genes in cancer, particularly the behaviour of genes in people who suffer from drug resistance. Resistance to chemotherapy drugs, which is often part of a multi-drug resistance, is a serious problem for cancer patients. Understanding the way genes act in this condition may help researchers find a way of developing treatments and therapies that are more effective. But more than that, the findings can lead to a better understanding of gene behaviour in other diseases.

In 2005, Sam and his team generated a great deal of interest among the international scientific community with their discovery, which was highlighted on the cover of the prestigious scientific journal Nature Genetics, of a master regulator, a class of molecules that control the “switching on” or “switching off” of genes. His discovery has significantly increased our understanding of the way that genes are controlled and may represent. This may be a critical link between the environment and whether a cell faithfully produces the proteins programmed by its genes. By uncovering how genes are manipulated in this way, researchers have a better chance of preventing genetic diseases or, when they haven't been prevented, designing better treatments.

Sam’s research has uncovered very distinct patterns in the way these genes “misbehave”, regardless of the disease being studied. He has focused his work on the need to understand why the gene is switched off. By understanding the modus operandi of, for example, the Fragile X gene “silencing”, or “switch off” mechanism, in the future we may be able to interrupt that mechanism and reactivate that gene, and genes in other devastating diseases.

Diabetic Complications

Human Epigenetics

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