Letter to parents, 4 July 2014

Dear Parents,

It is already some time since we gave you an update on our project. With limited resources, progress is unfortunately slow. Nonetheless, we are making some progress and hope to inform you during the coming months on the effects of deletions and duplications of specific parts of chromosome 6.

We had earlier told you that we had applied for a large grant in order to be able:

• to improve the collection of data,
• to construct an interactive website to provide feedback on all the information we have received from families and care-givers in a user-friendly and instructive way, and
• to evaluate the effect of such a website on the well-being of the families.

However, last week we received a letter saying our request would not be granted. Our research proposal was evaluated by three external reviewers and their conclusion was that, although they considered our application was of very high quality, our proposed study was not within the scope of the funding call of the agency. They told us that our study was not “translational” enough. We could not convince them that collecting and providing information on rare chromosome disorders was resulting in better care for patients with such a disorder and that a beneficial effect could be evaluated by measuring the well-being of families using validated questionnaires.

So, for the moment, we have to continue with small steps and ask you to please be patient. We will inform you of every new finding, but detailed analysis of genetic and clinical data is complicated. I know this sounds strange, because all we need to do is collect lots of information, lump the data of patients with similar chromosome 6 aberrations together, and summarize their clinical information. But, unfortunately, it is not that simple. There are hardly any children in your group who have exactly the same deletion or duplication, and we always need to take into account natural variation and other confounding factors. The more information you provide us with, the more reliable our feedback to you will be.

Of course, we will continue to try to find more funding. One day we really hope to offer you a useful, interactive, website like we dream of. If any of you have any bright ideas, please do not hesitate to let us know.

With warm regards,
Prof. Conny van Ravenswaaij-Arts
Clinical Geneticist
UMC Groningen, the Netherlands

Webpage on Chromosome 6 research project