GENROC study opens for recruitment in the UK: Improving the treatment for children with GENetic Rare disease: Observational Cohort study
This study has been set up by Dr Karen Low, a consultant clinical geneticist based in Bristol. Dr Low is particularly interested in genetic conditions that cause children to have developmental delay, intellectual disability and/or autism. She has conducted research into a number of syndromes particularly including KBG Syndrome, PUF60 related syndrome, and HUWE1 related syndrome. Dr Low is a member of the KBG foundation scientific advisory board, has organised a UK KBG family day in association with Unique and has written 4 of the Unique patient information leaflets. In her work in these syndromes Dr Low has seen how difficult it can be for families when not enough is known about their child’s genetic condition and how this can impact on their clinical care. Gene specific growth information is an area that is often lacking in many of these syndromes.
What is GENROC aiming to do?
The idea behind GENROC is to improve the amount that is known about a number of rare genetic syndromes. By understanding the syndromes better, doctors will know what is expected for a child with that particular condition and will therefore have a better idea about how to treat them and whether or not certain investigations might be needed. In particular, the hope is that by doing so the team will produce useful information for making clinical decisions such as gene specific growth curves.
How are they going to do it?
The GENROC team believe that parents of children with genetic syndromes know a lot about their child’s condition – often more than most of the child’s doctors! GENROC also recognises that many of the social media groups generate a lot of very useful data about these syndromes.
The team will collect data from different sources which will include from parents via online questionnaire. This will take place at the point of joining the study and then later as well allowing more insight in to how children are affected as they grow (rarely investigated in genetics research). The child’s genetics doctor will also be asked to send some information. The team will be looking at some additional interesting areas including whether websites and social media data can help and whether machine learning and data linkage might be possible and useful in improving clinical care in rare syndromes.
How can we take part?
At present the study team are looking for families with changes in specific genes only. Please see the below images to see if your child is eligible for GENROC. Eligibility criteria and the full parent information leaflet is available here.
Any questions can be directed to email@example.com.