Chromosome 18 Europe Research Centre

Chromosome 18 Europe Research Centre

To provide individuals and families affected by chromosome 18 abnormalities with evidence based medical and therapeutical information


  • To be the European medical and educational resource for individuals with chromosome 18 abnormalities and their families
  • To perform and facilitate clinical, therapeutic and basic research relating to chromosome 18 abnormalities
  • To develop and evaluate treatments and interventions that enhance the quality of life for people with chromosome 18 abnormalities
  • To enhance European-level cooperation and coordination on therapy/treatment options for people with chromosome 18 abnormalities
  • Communicate recent relevant clinical research in a language and format easily understood by families affected by chromosome 18 abnormalities



Comprehensive Clinical Assessments

Comprehensive clinical assessments of a large number of people with each condition is paramount. While the ‘Chromosome 18 Clinical Research Centre’ based in San Antonio has collected significant clinical data there is currently no equivalent assessment available in Europe. Therefore we would aim to extend that opportunity in a systematic manner across Europe delivered through the newly established European Reference Networks.


Therapeutic Evaluation

New therapies and treatments for many of the conditions found in chromosome 18 abnormalities are appearing all the time but generally there is little systematic evaluation of these therapies except anecdotal accounts. Therefore a major focus of the work of the  Chromosome 18 Europe Research Centre would be to evaluate the efficacy of a range of commonly used therapies used to improve the quality of life of individuals with C18 abnormalities. It is envisaged that this information could be used to refine and improve therapy options.


Collection of Genomic data

Genomics data generated through RD research initiatives holds major potential to support clinical diagnoses and patient management.


Patient/Family Survey data

The creation and analysis of specific Patient/Family Survey data will provide a valuable source of information to the families affected by chromosome abnormalities. In addition this data will also help direct future areas of research.



Clinical and Scientific research is not easily interpreted by the general public therefore the Chromosome 18 Europe Research Centre will communicate recent research updates in a user friendly language to the members of Chromosome 18 Europe via its website.


The Chromosome 18 Europe Research Centre is based at the University of the West of Scotland directed by Professor Richard Davison. It reports to the committee of the Chromosome 18 Registry and Research Society (Europe) at each of its meetings.






Twenty years experience with the assessment and evaluation of children and adults with chromosome 18 changes.