The BBVA Foundation Frontiers of Knowledge Award in Biomedicine honors Adrian Bird for his discoveries in the field of epigenetics, the study of chromosomal factors that affect gene expression without changes in the DNA sequence. Through his work, Adrian Bird identified specific chemical signatures in the DNA involved in the control of gene activity. These regions are marked by DNA methylation and organized within the genome in a precise manner. This is essential for development and is associated with a number of key processes which ensure the normal growth of all mammals, including humans. DNA methylation also plays a crucial role in many diseases and in the progression of nearly all types of cancer.
In a mammal, all cells have the same DNA sequence. However, cells involved in different functions express distinct subsets of genes. These different expression patterns are stabilized through epigenetic marks, of which DNA methylation was the first to be discovered and characterized. DNA methylation marks are inherited as cells divide, and in some cases inherited across generations.
Adrian Bird also identified proteins that read the DNA methylation signals, mutation of which leads to human diseases. Recently, he has shown in a mouse model that restoring the function of one of these proteins can reverse the symptoms of a severe form of autism known as Rett syndrome. This is the first time that a neurological disease has been reversed in an experimental context, and offers hope that this approach can be translated into the clinic. Understanding how to change epigenetic marks is expected to have applications in treating a broad spectrum of diseases.