Mara Dierssen, PhD, Center for Genomic Regulation in Barcelona, Spain

In our experience, medical researchers are passionate, engaging, and creative people who are wholly devoted to improving the lives of the people they serve. This is especially true in the fairly small Down syndrome research community, and could not be more descriptive of Dr. Mara Dierssen, head of the neurobehavioral analysis group at the Center for Genomic Regulation in Barcelona, Spain.

To say that Dr. Dierssen is lively and passionate about what she does would be an understatement. As proof of her commitment and diverse interests, Dr. Dierssen - in her free time - encourages young people in neuroscience research through programs in Barcelona, and performs with a rock band that has recorded a CD of music written by people with Down syndrome. Proceeds from her band’s performances are often used to support research to improve intellectual disability.

Dr. Dierssen’s pioneering research into the use of a natural antioxidant in green tea called EGCG (Epigallocatechin gallate) is better known to the international community and to families in the United States. In 2010, the Sisley-Jerome Lejeune Prize was awarded to Dr. Dierssen for her ground-breaking contributions to the development of research in cognitive disability.

We have discussed elsewhere in this newsletter the DRK1A gene and its role in intellectual disability in Down syndrome. Initial research conducted by Dr. Jean Delabar confirmed DRK1A as a suspect, and it is he who first identified EGCG as a possible candidate for treatment use. Dr. Dierssen’s work has built upon the initial investigations of Dr. Dalabar. With her colleague, Dr. Rafael de la Torre, they have taken EGCG to the clinic and ran a successful clinical trial funded largely by the Jerome Lejeune Foundation. In their initial trial, a group of 87 patients from 14 to 29 years old were enrolled and given EGCG in conjunction with a regimen of brain stimulating exercises. The first analysis of the data from this trial has been promising and a publication is pending. Meanwhile, plans are underway for a follow up trial that will include 2 groups of children- the first from 2 to 6, and the second from 6 to 12 years of age. The Jerome Lejeune Foundation will be supporting Dr. Dierssen once again in her pursuit of treatments to improve cognition in individuals living with Down syndrome.

Dr. Dierssen is appreciative of the support of the Jerome Lejeune Foundation and its confidence in her research. Likewise, the Foundation appreciates Dr. Dierssen’s contributions to the field of research and her whole-hearted commitment to improving the lives of people living with genetic intellectual disabilities.

You can view a 2011 interview the Foundation conducted with Dr. Dierssen during our international research conference in which she discusses the focus of her research.