CATALOGUE OF PARTNERING EVENT PROFILES
Research project Description of project
Assessment of therapeutic targeting of Dyrk1a in Down syndrome models Down syndrome (DS), the most common genetic source of mental retardation (500000 cases in Europe), is caused by the presence of an extra copy of human chromosome 21 (ie trisomy 21, HSA21). Features of DS are due to overexpression of genes on HSA21 acting either directly or indirectly on the phenotype. Genotype/phenotype correlations have allowed to define candidate regions associated with mental retardation: the smallest region contains 13 genes including a serine threonine kinase Dyrk1a with multiple targets. Mice models of partial trisomy containing Dyrk1a present a number of DS-relevant central nervous system phenotypes including changes in neuronal morphology and functional deficits, especially cognitive impairments in cortical- and hippocampal-dependent learning tasks. These results establish Dyrk1a as a potential target to modify the brain phenotypes. This project will combine expertise in mice genetic, molecular phenotyping, chemical designing, behavioural and electrophysiological analyses. The characterization of an efficient drug, allowing phenotypes (molecular, behavioral, synaptic plasticity) rescue in mice, will be a starting point to design innovative therapeutic strategies for DS.
Expertise offered
animal modelling, molecular analyses, behavioral analyses Requested partner expertise
pharmaceutical strategies, nanoencapsulation
PROFILE France
Areas of activity
Barbara DEMENEIX demeneix@mnhn.fr Head of Unit and Department Physiology, Endocrinology, Thyroid Hormone
ORGANISATION Name Type Department Short description
CNRS/MNHN UMR7221 Research center Regulation, Development, Molecular Diversity The UMR 7221 is a Joint Research Unit, represented by CNRS and the Muséum National d’Histoire Naturelle. The French National Center for Scientific Research (CNRS) is a government-funded research organization under the administrative authority of France's Ministry of Research. It defines its mission as producing knowledge and making it available to society. CNRS has 31,000 employees (among which 11,700 researchers and 14,400 engineers and technical and administrative staff). Its budget amounts to 2.834 billion euros for the year 2006. The 1190 CNRS service and research units are spread throughout the country and cover all fields of research. The Muséum is a leading research institute in France with expertise in many areas of natural science including chemistry of natural substances, evolution and development, and physiology. The department of Regulations and Development (which is headed by Prof. DEMENEIX) includes five laboratories of which three are affiliated to the CNRS and one to INSERM. The laboratory participating in this consortium is the UMR CNRS Evolution of Endocrine Regulations. This unit addresses the molecular mechanisms of
18