Information for Families
If you are already taking part in the GOLD project, thank you so much for your help.
If you are not already involved but are interested in taking part please read on.
Based at the Cambridge Institute of Medical Research (CIMR), Department of Medical Genetics, University of Cambridge, the GOLD Study team is working to identify genetic causes of intellectual disability where no other cause has been found. Since we started in 2001, we have found 12 genes which carry changes that give rise to intellectual disability. We now need to do more work to better understand these genes and to identify new ones. To do this we need to recruit 2000 new families with a history of intellectual disability, where no cause has been found.
Taking part in the study involves signing a consent form which allows us to:
(i) request relevant clinical information about your family from your genetic consultant; and
(ii) analyse DNA from you and other members of your family to look for significant changes in the genetic code.
DNA is extracted from blood or saliva samples. Wherever possible we use existing stored DNA samples to avoid the need to take a new sample. However, where there is no stored sample available or it is too old, we will ask you for a saliva sample in the first instance. The saliva sample can be obtained using a home collection kit for which full instructions are provided. Giving a saliva sample is non-invasive and carries minimal risk. On occasions we may also need to ask you to give a blood sample.
We then analyse the DNA and look for any significant changes in the genetic code that could be responsible for the intellectual disability. Any significant findings are double checked for accuracy and reported to your genetic consultant who will contact you directly to explain the relevance of the findings and offer you support.
This is an ambitious project and as such it will take a number of years before the results are available. The results will help to develop a routine service to test children with significant intellectual disability and may provide answers to questions such as 'why does my child have intellectual disability' and 'will my next child have similar problems'.
For more detailed information about the study click here to read the GOLD Study patient information sheet.
If you would like to participate in the study or you require further information please contact either your regional genetics unit (see Directory of UK Genetic Centres) or a member of the research team by emailing Gold Study
Thank you for taking the time to read about this important study.
This research was carried out to help understand people's experience of taking part in the GOLD Study. The main findings from the study show that most people taking part are:
- in favour of genetic research and happy to be taking part in the GOLD study
- in favour of the research continuing until information is found that is useful to them, their families and other families in general
- happy for their blood and DNA samples to be kept for future use
- concerned about the delays experienced in receiving feedback when significant results have been found
We are taking on board the findings from this study, and in particular we will be seeking to put in place a better way of providing feedback of significant results to families that will help to avoid frustrating delays.
This research was carried out to study the consent process experienced by participants enrolled in the GOLD study.
- © 2009 University of Cambridge, Genetics of Learning Disability, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Cambridge CB2 0XY
Information provided by Gold Study