Chromosome 6 research
Please see our new website in English at http://www.chromosome6.org
And via Twitter @C6study
Quote from the C6 Facebook page (2017): "We just want to thank everyone who supported us and helped us get to Orlando, Florida, for the family meeting of C6 children. We learned so much from Professor Conny and the rest of the research team. We cannot thank you enough for what you do for our children, in particular our son. Knowledge is power and sharing that with us makes us more understanding of these rare genetic disorders. We came away with so much information and many new friends. It was exciting meeting families just like ours facing the same fears. It was so nice sharing laughs and jokes about the similarities we face. I pray for all the families we met, that they find the strength to continue with that contagious spirit of self-giving and love! Till the next one!"
Why do this research?
Chromosomal changes, such as mutations in chromosome 6, are a significant cause of congenital birth defects and developmental delays in children. Knowledge about the effects of these chromosomal changes is important to ensure the best possible guidance and treatment for these children. While chromosome 6 changes are not rare, there are many different mutations possible, each with different symptoms. Because of this variability, there is little information available for each specific mutation, leading to uncertainty for parents and doctors and sub-optimal treatment for these children. Both parents and medical professionals need more specific information on the disorder and the child's development in order to help.
What is our goal?
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.
What have we done already?
The mother of a child with a chromosome 6 mutation who attends our clinic told us about the active international chromosome 6 patient group on Facebook. A large group of parents has joined this Facebook group. Encouraged by the mother, we came up with the idea to launch a study of chromosome 6 deletions and duplications in the Facebook group. We prepared a research protocol and extensive questionnaire. They enthusiastically welcomed the study and within a few weeks we had more than 140 requests to participate. Together with these parents we were able to collect detailed information about the child-specific genotype (the exact changes in their chromosome 6) and phenotype (congenital problems, development, behaviour, etc.) of deletions on the long arm of chromosome 6 in an unprecedented number of new patients. The results of this initial study have given us new insight into the function of specific genes and which developmental problems are to be expected.
Further examination of the data we have already collected will yield more interesting information. There are also more parents eager to take part, and we would like to be able to collect this extra data that will enable us to further improve the genetic map of chromosome 6.
By analyzing the data we have collected and adding data from other medical databases and studies, we will be able to make a detailed genotype-phenotype map of chromosome 6.
What do we need to be able to do this?
To continue with this study we need not only time, but also money. We are currently busy applying for research grants. In addition, there are individual parents busy collecting money for our research through sponsorship. In this way, we can truly say this study continues to be one driven by parents, for parents.
Video of Conny van Ravenswaaij discussing her C6 research taken in Chicago (Nov 2015); See also C6 News
|28 August 2018 11.27 a.m.