Epigenetics could be defined as the study of what happens when genes interact with the environment. To explain this more simply, we could say that the genes are like the books in a library and epigenetics would be how the library has been organised, the filter that determines which books are going to be read and which books are not. Every cell in the body is genetically the same, but functions differently.
In the human body there are perfectly normal cells in the bone marrow which have the incredible ability to continuously replace all the components of the blood throughout an entire lifetime. The human body has new blood approximately every hundred days. Thanks to this we breathe well and the body can defend itself against attacks from viruses and bacteria. When there is a disease of the blood, it might be that these cells in the bone marrow have stopped working properly. Doctors can detect when they have changed their appearance (dysplasia) or when the disease worsens, upon which, as well as not working properly, these cells begin to multiply (leukaemia).
Why do we need to investigate?
Research over the last ten years has focused on reading genes and possible alterations. Although we have achieved a greater understanding of many diseases, in the case of leukaemia we have still to find a cause. Dr. Buschbeck's team's work is centred on epigenetic research, the aim of which is to understand how and where errors occur in the genes' organisation.
If it can be discovered why a cell stops working properly it will be possible to make progress in developing drugs to halt or eradicate the disease.
The impact of our work
In essence Dr. Buschbeck's team's work is focused on studying gene organisation, both in healthy individuals and in patients, in order to:
1. Identify which patients will respond positively to treatment;
2. Discover how to make non-responsive patients responsive;
3. In the case of patients that do respond to treatment, discover how to make them responsive for longer periods (35% of high-risk myelodysplastic syndrome patients develop an acute leukaemia between 12 and 24 months after initial diagnosis);
4. Find the targets to aim for with new or complementary drugs.
The impact of Dr. Buschbeck's work is to give a chance to people who do not have one at present through epigenetics. Today, patients with high-risk myelodysplastic syndromes who can not undergo a bone marrow transplant have a very poor prognosis and a poor response to treatment.
Josep Carreras Leukaemia Research Institute Dossier
For more information, the following web page can be consulted: