Professor Mara Dierssen, Group Leader at the Centre for Genomic Regulation, Barcelona (Spain). Her laboratory is investigating specific links between cognitive impairments and memory disorders in patients with Down syndrome and behavioural deficits in mouse models of this disease. She has published a number of peer reviewed papers on the subject.
Translational research in Down's syndrome: from understanding neurobiology to therapies that improve memory and brain function
Center for Genomic Regulation (CRG) and CIBERER, Barcelona, Spain
Down syndrome (DS) is the most common genetic cause of mental retardation. Mental retardation is a developmental disability with onset during childhood characterized by significant impairment of intellectual functioning and adaptive skills causing major limitations to live a normal, independent life. During many years DS has been considered a hopeless disorder. However, recent advances in the knowledge of DS neurobiology have led to crucial discoveries opening the possibility to therapy. However, an abundance of inconclusive study findings and contradictory information has made it difficult for parents who want definitive answers from credible sources. The main problems in the field have been over-reliance on a few pharmacological mechanisms, lack of validated molecular targets, and the severe side effects and narrow dose window of some of the proposed drugs. Moreover, in most, if not all the cases, the disease progression and the effects of 'nurture' and epigenetic changes are ignored. We will discuss a strategy based on our discoveries in animal models, in a beautiful example of translational research. We have based our strategy in a new concept: acting to favor the success of physiological brain processes. Our previous work in trisomic mice suggested that structural neural plasticity is impaired due to an inability to translate the temporary changes in synaptic plasticity after exposure to enriched environments, into stable structural changes. We here postulate the normalization of specific candidate genes, such as the Dyrk1A kinase, could rescue the limited capacity of modulating the synaptic plasticity in DS brains after early implementation programs. We will also address other practical questions as when to treat or how long should the treatment last. The benefits and dangers of treating during the prenatal period, that would act on the genetic building of the brain, in the postnatal period, thus addressing the activity (experience)-dependent wiring or in the adult in the hope of achieving a functional recovery.
The Search for Medicine for Down's Syndrome
Towards an International Research Alliance
September 17th 2011
The Wellcome Trust Conference Centre
Hinxton, Cambridge, UK.
Program sponsored by
The Down's Syndrome Research Foundation UK
and a grant from Alzheimer's Research UK: