Blood from the pricked heels of newborn babies can provide insight into the epigenome — chemical changes to DNA that influence gene expression — before diseases set in.

Most babies born in developed countries have drops of their blood blotted onto a slip of paper called a Guthrie card (pictured), which is used to screen for certain diseases. Vardhman Rakyan and David Leslie at the Queen Mary University of London and their colleagues analysed DNA from the Guthrie cards of three healthy children born in 2000, looking for differences in patterns of DNA methylation, an epigenetic change that involves the addition of methyl groups to DNA. The researchers found about a dozen differences that were still present in samples taken three years later and did not seem to be linked to underlying genetic variation. This suggests that the changes might be the result of differences in conditions encountered in the womb.

Guthrie cards could help researchers to distinguish between epigenetic changes that are driving a disease and those that result from it.

Credit: SCIENTIFICA/VISUALS UNLIMITED, INC./SPL

Genome Res. http://dx.doi.org/10.1101/gr.134304.111 (2012)