The Biology of Chromosome 21 Genes: R13 Expert Workshop

Eleanor Roosevelt Inst For Cancer Res, Denver CO

Investigators

Abstract

DESCRIPTION [Provided by Applicant]: To create new research directions and opportunities for collaborations in the study of Down syndrome, there is a need to bring together two groups of investigators: (1) those studying human chromosome 21 and Down syndrome and its mouse models, and (2) those studying the biology and/or the molecular biology of specific genes that map to chromosome 21 or specific pathways or processes whose components map to chromosome 21. The first group includes experts on chromosome 21 who have been involved in the mapping, sequencing, and annotation of chromosome 21 and its homologous mouse genomic regions, the identification and expression analysis of chromosome 21 and its homologous mouse genes, the creation and analysis of mouse models of Down syndrome, both segmental trisomies and transgenics, and the definition of the human Down syndrome phenotype. Members of the second group not involved in Down syndrome research may not even be aware that their work can impact Down syndrome research. They are studying individual genes or family members such as transcription factors, transcription regulators, or ion channel genes that map to chromosome 21, or processes such as the ubiquitin proteasome pathway, RNA processing, tight junctions and cell adhesion, or the MAP kinase pathway, each of which has several component or modulating genes mapping to chromosome 21. This application requests funding to cover venue and travel expenses for a workshop to bring together approximately 30 established chromosome 21/Down syndrome investigators with approximately 30 non-Down syndrome but chromosome 21 gene experts to discuss the biology of chromosome 21-encoded genes and the implications for their overexpression in the Down syndrome phenotype. The meeting will be held for three days in Washington, DC within a timeframe of five months after the availability of funding. It is anticipated that this workshop will generate new and testable theories for gene-phenotype correlations in Down syndrome, foster new collaborations, and introduce new researchers with novel expertise to the Down syndrome research field.