Why are you collecting biological samples and environmental information?

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

1. Biological samples will be collected to carry out an in depth genetic analysis which may involve the entire genome.
2. Biological samples will be used to assess exposures in pregnancy in order to identify environmental risk factors for cleft.
3. For a subset of children, we aim to perform gene regulation analysis (Epigenomics) and gene expression analysis (Transcriptomics) to study how genes in children with different forms of cleft are regulated.
4. For some children, we also aim to construct primary fibroblast cell lines from lip and palate tissue. These cell lines can be used to make DNA, and to investigate cellular mechanisms in children with cleft.

To achieve these aims, the Cleft Collective will create a large bank of anonymised biological samples, which can be used as an extensive biological resource.

What biological samples and environmental 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 above 5 years of age) using Oragene saliva kits (http://www.dnagenotek.com/index2.html).

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 for these biological 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.

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. Biological samples will be stored within the Bristol Bioresource Biobank (BBL). Specifically, all DNA samples will be stored in a DNA bank, and all tissue samples will be stored in a tissue bank.

Participants will receive information about the progress of the study through newsletters, social media and the website. Anonymised findings of our research will be reported in professional publications, meetings, conferences and newsletters.