Medical Research Council - London Institute of Medical Sciences

Now in our 7th year of bringing you beautiful imagery from biomedical science every day

Missing Genes
11 July 2012

Missing Genes

With some 20,000 genes in the human genome it’s difficult to imagine how a few missing copies might be a problem. However, if only a handful is lost, the impact on the individual is significant. Take for example the case of a genetic disorder known as Williams Syndrome. Carter (pictured) is four years old. Like hundreds of thousands worldwide, he is missing a tiny chunk from chromosome seven. The absence of only 25 genes seems to affect people in a very similar way. Individuals with Williams Syndrome experience developmental delay and are prone to heart defects. One of the missing genes, ELN encodes for the protein elastin. This stretchy protein helps to keep blood vessels supple. How the loss of other genes is linked to the characteristic social inhibition, musical propensity or very empathetic personalities of people with Williams Syndrome, has yet to be explained.

Written by Brona McVittie

Search The Archive

Submit An Image

What is BPoD?

BPoD stands for Biomedical Picture of the Day. Managed by the MRC London Institute of Medical Sciences the website aims to engage everyone, young and old, in the wonders of biomedicine. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.

Read More

BPoD is also available in Catalan at www.bpod.cat with translations by the University of Valencia.