International Conference on Chromosome 21 & Medical Research on Down Syndrome


The III International Conference on Chromosome 21 and Medical Research on Down Syndrome was organized by Fundació Catalana Síndrome de Down with the scientific support of the New York-based National Down Syndrome Society and held in Barcelona on 18-19 March 2005. This conference has by now become an established forum to discuss new research findings on chromosome 21 and Down syndrome. The international experts invited as speakers offered an updated perspective on the clinical, diagnostic and genetic aspects of their research. For two intensive days, researchers enjoyed the opportunity to share their experiences and develop new avenues for collaboration.


  • Exploring the neurobiology of Down syndrome: new insights suggest new treatment strategies. W.C. Mobley.
  • Oxidative stress markers in Down syndrome (IX Ramon Trias Fargas Award). A. Casado.
  • Meiotic prophase features, pairing and recombination, in Down syndrome oocytes. M. García.
  • Cardiac problems on the Down syndrome during adult life. Q. Ferrer.
  • Torticollis in Down syndrome. J. Puig Galy.
  • Characterization of the genes in the DSCR2 – SH3BGR region of chromosome 21. R. Oliva.
  • Phenotypic description and modeling of murine models overexpressing HSA 21 genes. J. M. Delabar.
  • DYRK1a and neuronal alterations in murine models of Down syndrome. X. Estivill.
  • Updated growth charts for the spanish children with Down syndrome. X. Pastor.
  • Complementary and alternative treatments for Down syndrome. W. Cohen.
  • External auditory canal size in DS. Relationship with ear pathology in children and adolescents. J. Domènech
  • Compensatory responses in the brains of adults with Down syndrome. E. Head.
  • The cerebral cortex in Down syndrome murine models. M. Dierssen.
  • Foundations for therapy of neuronal deficits in Down syndrome. R.H. Reeves.
  • Protective effect of green tea on brain alterations in murine models overexpressing Dyrk1a. J. M. Delabar.
  • Gene expression profiles in Down syndrome and in mouse models. M. Sultan.
  • Dementia and Down syndrome: neuropathological substrates of clinical variability Leverenz, B. James.
  • Cognitive and behavioural effects of donepezil in adults with dementia associated with Down syndrome. M. Boada, M. Buendía
  • Behaviour and learning in the ts65dn mice, a model for Down syndrome: new contributions. J. Flórez.
  • The pyramidal neuron in cognition and mental retardation. R. Benavides-Piccione
  • Reducing oxidative damage and providing behavioural enrichment may promote successful aging in Down syndrome: evidence from a longitudinal study in a canine model of human aging. E. Head.



The II International Conference on Chromosome 21 and Medical Research on Down Syndrome was held in the Auditorium owned by Fundació Caixa de Catalunya in Gaudí's "La Pedrera" or "Casa Milà", with 142 participants. The two principal areas of current research on DS -- genetic studies and medical advances -- were addressed in parallel. Sessions consisted of official presentations by guest lecturers and presentations of selected papers submitted by regular participants and portraying the work of the different teams involved. The conference was designed with a view to promoting exchange among participating research groups, which were involved in many different kinds of research, including preventive medicine, medical care, medical research on Down syndrome, chromosome 21 in its many different facets, genetic causes of mental retardation, genetic analysis of human behavior, gene therapy, and alternative treatments. The target audience consisted of participants working in several areas of science linked to Down syndrome, chiefly medicine, biology, and other health-related disciplines.

Speakers included Prof. D. Patterson, Professor of Genetics at the University of Denver, Colorado (USA); Dr. I. Cohen, pediatrician at Children's Hospital, Pittsburgh, Pennsylvania (USA); Dra. B. Patterson of Cincinnati, Ohio (USA); Prof. J. Flórez, professor of Pharmacology at the Universidad de Santander, Santander (Spain); Dr. J. M. Delabar, of Hôpital Necker, Paris (France), and Dr. M. Petersen, of Aghia Sophia Children's Hospital, Athens (Greece).

Like the preceding edition held four years before, the second conference was a gathering of many worldwide experts specializing in genetic and clinical aspects of DS. For two intensive days of protracted academic discussion, 120 professionals from 21 different countries debated the hottest topics relating to trisomy 21.

Moreover, the conference included a meeting of the Down Syndrome Medical Interest Group (DSMIG), a US-founded group of specialists established in 1994 which regularly sets guidelines for health programs to be adopted by working groups worldwide. The DSMIG met on 5 April 2001, before the scientific sessions of the II International Conference on Chromosome 21 and Medical Research on Down Syndrome began; it was the first Europe-based meeting of this group of experts who are developing DS-specific health guidelines.


The I International Conference on Chromosome 21 and Medical Research on Down Syndrome was organized by Centre Mèdic Down (CMD), the medical center operated by the FCSD, in order to provide a platform for scientific exchange. Held three years after work had begun on research projects funded by the "Marató de TV3" telethon, it served to showcase the results obtained by the 10 research teams involved. Fourteen guest speakers of great prestige were invited to present a number of aspects relating to DS and chromosome 21. There were over 160 participants from 23 countries, including the chief worldwide experts in a number of disciplines relating to Down syndrome and chromosome 21, who discussed new breakthroughs in clinical and genetic research. The high scientific standard was borne out by the more than 25 free papers and over 80 posters presented by participants.