Biological and environmental data

Why are you collecting biological samples and environmental information?

We will collect biological samples and environmental information to support the following approaches:

  1. We aim to gain a better understanding of the genetic factors contributing to cleft by investigating people’s genetic information including their whole genome. The 'genome' is the complete set of genetic information we carry in our body and contains over three billion letters of a chemical called DNA (deoxyribonucleic acid). It contains all of the instructions about how to make the building blocks of a human being and key information about how these building blocks are combined. Overall the genome is quite similar between individuals. However, there are genetic differences between people, and some of these genetic variations can make us more or less likely to develop conditions such as cleft. These changes can sometimes be inherited from one generation to the next, and this is why cleft can run in families.
  2. We also aim to examine small changes in the chemicals which make the DNA, as they can switch genes on and off. These chemical changes can be related, for example, to smoking during pregnancy, and are one way in which the environment can interact with the genetic information. This will help us to better understand how genes work together, but also how genes and the environment interact and how this relates to cleft. We will also study some other biological information, which is important in the process of making the building blocks of human beings.
  3. Finally, in a small subset of the cohort we aim make cell lines. DNA from a single sample would run out before we can complete our research. By taking cells from blood and tissue and providing them with the correct nutrients and conditions, we can keep them alive and grow them in the laboratory. This means we can make more DNA if it is needed for further analysis. We can also use cell lines to help tell us the way in which cells from people with different types of cleft grow.

All samples (including DNA and cell lines) will be anonymised and stored securely.

What samples and information are you collecting?

We will collect blood and tissue (which would normally be discarded) from children during their cleft repair surgery. We will collect saliva from all other recruited members within our study (including mothers, fathers, siblings, and children with cleft over 5 years of age). For the collection of saliva, we use specially designed saliva kits. These provide an easy and quick way to collect saliva and require spitting in a tube.

A small number of families will be recruited before the child with cleft is born. For these families we will also collect cord blood from the placenta at birth, after the cord has been cut.

DNA will be extracted from these biologicial materials. The tissue will also be used to carry out further biological analyses and to make cell lines.

All of the samples will be collected during the child’s routine treatment for cleft and will not interfere with the child’s treatment or require any additional appointments. All of the samples will be taken with the help of the cleft team and/or the hospital staff, who are familiar with the study and trained to collect this information.

 Birth cohort5-year old cohort
Children Lip or palate tissue(at surgery);
Blood at surgery;
Cord blood (for antenatally recruited mothers)
Parents Saliva Saliva
Siblings Saliva Saliva

Information about the child’s environment will be collected from parents using questionnaires.

How and when are you collecting the biological samples and environmental information?

example timeline (PDF, 63kB), which explains how and when we will collect information from families who take part in the Cohort Studies.

What will happen to the biological samples and environmental information?

All samples and data will be stored securely and anonymously at the University of Bristol.

How can I get involved?

For information about how you can get involved with this study, please visit our involvement page.

Useful links:

Edit this page