Gage And I for Chromosome 6 research

Please join usin raisingfunds for the Chromosome 6 Research Study being done in The Netherlands.

In this study we want to compare the exact changes in chromosome 6 (the genotype) with the effect these genetic changes produce in the appearance and other clinical symptoms of the child (the phenotype). In this way we hope to link specific disease characteristics with specific regions of chromosome 6. It may then be possible to predict the clinical effect of certain deletions (absence of chromosome 6 material) and duplications (excess chromosome 6 material), and learn about the functions of the many genes that make up chromosome 6. Our goal is to produce a detailed genotype-phenotype map of chromosome 6. This map can be used to give tailored guidance to patients and their families about the prognosis for their child, ranging from their likely developmental trajectory to additional health problems they could encounter, all with the goal of offering child-specific guidance and treatment. This genotype-phenotype map will be used to inform patients and parents via an interactive website. This website will have films about the basics of genetics and how to use the site. Most importantly, it will have an interactive graphic depiction of chromosome 6 in which visitors can zoom in on the specific regions. By selecting a region and indicating whether there is a deletion or duplication, various types of information window will pop-up on clinical features, advice for clinical tests, useful links, and information on the key genes in the region.