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

Chromosome 6 afternoon Orlando, USA 2017

What do you do if your child has a disease or disorder that only a few children in the world have? Which doctors know so little about? Then you want ‘science’ to find more information as soon as possible!

Conny van Ravenswaaij is a scientist and medical doctor in the UMCG (in the Netherlands) and an international expert on children with a chromosome 6 disorder. Parents of children who have a chromosome 6 disorder live all over the world and exchange their experiences via their own Facebook page. A few years ago they decided to collect money for the research that Conny and her colleagues are doing. It was the start of a long-term research project: the Chromosome 6 Project.

Continue reading Chromosome 6 afternoon Orlando, USA 2017

FB update – August 2017

Dear Chromosome 6 parents,

As you may know, we are now writing an article for a medical journal about the consequences of proximal 6q (6q11-q16) deletions. We have collected a lot more data than has been reported in the research literature so far. Our medical paper will describe the largest group of patients – more than 40, including 16 from the Facebook group – with a proximal 6q deletion ever studied.

We can already give you detailed information on the effects of small sub-regions of proximal 6q, but we could learn even more if we can persuade more parents/patients to participate in the Chromosome 6 Project.

Those of you who were at the Orlando C6 meeting with Conny on July 30th, will have heard her explain how complicated it is to analyse the precise effects of many different – and sometimes not even overlapping – proximal 6q deletions. Step-by-step we are gaining a more detailed and accurate picture, but you can still help us to learn more about the effects of specific proximal 6q deletions.

Wouldn’t it be wonderful if doctors could tell parents more about their child’s future with a specific proximal 6q deletion? This is all possible with your participation!

We are now in the final stage of writing our medical paper. We would like to ask you once again to sign-up today if you can participate and contribute to our work on proximal 6q (6q11-q16) deletions!* Go straight to www.chromosome6.org/submit-form

Deadline for submitting the questionnaire: Monday August 21st, 2017

Before this deadline you need to sign-up for an account (www.chromosome6.org/submit-form), fill out the Chromosome 6 questionnaire, and submit all three parts of it. If you do not submit all three parts of the questionnaire, your data cannot be used for our research. This also means that we will be emailing those parents who started to fill out the questionnaire but who have not completed it, to ask them how we can help them.

As soon as the medical paper is published (this will take several months), we will post a summary on our website www.chromosome6.org and on Facebook.

Thank you so much for your continued support and participation. If you have any questions, please do not hesitate to send us an email at chromosome6@umcg.nl

Thank you  for considering this request and thank you again to all those who have submitted information so far.

Kind regards,

Aafke Engwerda and Prof. Conny van Ravenswaaij-Arts
Chromosome 6 Research Project
E-Mail:                  chromosome6@umcg.nl
Website:              www.chromosome6.org
Follow the Chromosome 6 Project via Twitter: @C6study #chromosome6

*The Chromosome 6 Research Project will not stop. We are still collecting information on other regions of chromosome 6, such as intermediate and terminal 6q deletions. For proximal 6q deletions it will still be possible to participate in the project after 21st August 2017, but the information will not be used in this medical article.

proximal chromosome 6q

Aafke Engwerda and her poster on unravelling proximal 6q deletions at the Department of Genetics (UMCG). This poster was presented during the yearly conference of the ESHG (European Society of Human Genetics) in Copenhagen (Denmark) and also during ISCOMS (International Student Congress of Medical Sciences) in Groningen (the Netherlands).