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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Dr
.
Generation Study Team
-
generationstudy@genomicsengland.co.uk
Dr
Ellen
Thomas
-
generationstudy@genomicsengland.co.uk
More information about this study, what is involved and how to take part can be found on the study website.
Rare genetic conditions
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
Each year in England, about 3,000 babies are born with one of about 200 genetic conditions that are treatable in early childhood. Nine of these conditions are currently looked for in the NHS newborn bloodspot test. But there are many more conditions where earlier diagnosis and treatment could help. This study investigates the genomes of newborn babies to see if we can find and treat rare genetic conditions early. A genome is a person’s entire genetic sequence – the body’s instruction manual. The study team want to see if, by testing babies’ genomes, any standard treatment and management of the rare conditions can be initiated earlier.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
You can take part if:
You may not be able to take part if:
Current participant exclusion criteria as of 05/12/2023:1. Mother / birthing parent under 16 2. Mother / birthing parent who will not have parental responsibility for the baby (Babies who are being adopted) 3. Mother / birthing parent lacking the capacity to provide informed consent for any reason 4. Mother / birthing parent who does not give birth in one of the recruiting hospitals 5. Mother / birthing parent who does not have an NHS number6. Mother / birthing parent who is serving time in prison
Previous participant exclusion criteria:1. Mother / birthing parent under 16 2. Mother / birthing parent who will not have parental responsibility for the baby (Babies who are being adopted) 3. Mother / birthing parent who does not have a fixed UK address where they reside (prisoners, people in long-term care, people requiring refuge, people of no fixed abode) 4. Mother / birthing parent lacking the capacity to provide informed consent for any reason 5. Mother / birthing parent who does not give birth in one of the recruiting hospitals 6. Mother / birthing parent who does not have an NHS number
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Dr
.
Generation Study Team
-
generationstudy@genomicsengland.co.uk
Dr
Ellen
Thomas
-
generationstudy@genomicsengland.co.uk
More information about this study, what is involved and how to take part can be found on the study website.
The study is sponsored by Genomics England and funded by Department of Health and Social Care.
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Or CPMS 56000
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
