Down Syndrome and Other Genetic Developmental Disorders Network

“Through the activities of our Network, we obtained two grants for the JPND-funded projects HEROES and “Neuropathological and Amyloid peptides differences between Down syndrome and familial Alzheimer’s disease with duplications and missense mutations in APP gene”. Recently, our Network published the review “Translating molecular advances in Down syndrome and Fragile X syndrome into therapies” and an article about the first successful clinical trial in individuals with Down syndrome. Our members are also actively participating into the international Trisomy 21 Research Society (T21RS).”  
Marie-Claude Potier and Mara Dierssen
Chairs of the Network  

 

Mission statement/aims

Down Syndrome and Other Genetic Developmental Disorders ECNP Network Children with neurodevelopmental disorders exhibit a significant deviation of neurobiological mechanisms governing normal brain and behavioural development. However, despite the heterogeneity of genetic and environmental etiologies, neurodevelopmental disorders share common mechanisms, and common targets for improving neuronal deficits have been identified. Down syndrome (DS), the most frequent genetic cause of intellectual disability, affects more than 5 million people worldwide. DS impacts central nervous system development, impairing cognition, and behavior. While improved care of individuals with DS has significantly increased their life expectancy (55 years), it has led to highly frequent dementia. Indeed, by the age of 30, most DS individuals have amyloid plaques and neurofibrillary tangles and it is expected that 75% of DS subjects will develop dementia. The genetic basis for the morphological and cognitive changes in DS has been associated with overexpression of human chromosome 21 (Hsa21) genes.

Over the past decade, research in neuropsychopharmacology has made tremendous progress, identifying several targets for improving cognitive deficits in DS. The European Community has been very strong at initiating clinical trials by supporting solid preclinical data in mouse models of DS. Much more is expected to happen in Europe particularly on treatments of children and adolescents (and also prenatal treatments).

The Down Syndrome and other Genetic Developmental Disorders (DSG2D) ECNP Network aims to promote basic and applied research, stimulate translational research, apply new scientific knowledge to develop improved treatments and cures, and create European consortia to apply for European funding.

The European centers of the DSG2D ECNP Network share common goals:

  • To identify pharmacological targets to treat intellectual disabilities, particularly DS, from prenatal stages to the old age.
  • To identify experimental models for other intellectual disabilities to test pharmacological targets of DS.
  • To foster translational, clinical and pharmaceutical research on DS and other intellectual disabilities.

The aims of the DSG2D Network are:

  • To apply for funding of collaborative research: Horizon2020, IMI (Innovative Medicine Initiative), ITN (Innovative Training Network) including collaborative European Training Networks (ETN), European Industrial Doctorates (EID) or European Joint Doctorates (EJD).
  • To participate in the organization of the biannual international meeting of the Trisomy 21 Research Society (T21RS).

History
There is no European research consortium currently ongoing. The last FP7 project AnEUploidy ended in 2011. In spring 2014, the first non-profit scientific organization of researchers studying DS ─ the Trisomy 21 Research Society (T21RS) ─ was founded to promote basic and applied research on DS, stimulate translational research and apply new scientific knowledge to develop improved treatments and cures. This society has now more than 300 members worldwide. Members of T21RS established the DSG2D ECNP Network.