FB update – August 2018

Dear Chromosome 6 parents,

We are happy to share with you that our article on proximal deletions of the long arm of chromosome 6 was published in the scientific journal European Journal of Human Genetics on June 8th 2018.

First and foremost, we would like to thank all parents who shared detailed clinical information of their child with us. Without you this publication would not have been possible. Below we provide a summary of the paper, which was entitled ‘The Phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports’.

Continue reading FB update – August 2018

FB update – March 2018

Dear chromosome 6 parents,

We would like to thank all the parents who filled out a short survey about the C6 project participation. We really appreciate your help and have learned a lot about how to improve your experience from your answers. To quickly review, we sent out two separate surveys: one for parents who were not yet participating in the C6 project and one for parents who had started to fill out the questionnaire but had not completed it. In both cases we were interested in the barriers and difficulties that you are experiencing and on how we can help overcome these issues.

Continue reading FB update – March 2018

FB update December 2017

Dear Chromosome 6 parents,

 My name is Berber Dantuma and I am a third-year Dutch medical student at the University of Groningen (the Netherlands). I am participating in an honour’s programme called the junior scientific masterclass, which enables students to work on research projects. I became enthusiastic when I attended a lecture by Conny van Ravenswaaij about the Chromosome 6 project and how it is driven by an active group of parents supporting each other through social media. This project has revealed a new way for parents-of-patient engagement in scientific research projects. I really think that parents filling out the medical questionnaires themselves is unique and a very good way to engage them in research that generates more knowledge on the rare chromosome 6 disorders. Parents are more motivated and know their own child the best.

 


Continue reading FB update December 2017