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Celebrating the 10-year Anniversary of The Scar Free Foundation Cleft Gene Bank and Cohort Study

We are celebrating the 10-year anniversary of The Scar Free Foundation Cleft Gene Bank and Cohort Study – and now the world’s largest genotyping study to include parents as well as children born with cleft.

A cleft of the lip and/or palate occurs in approximately 1 in 700 births, with around 1,000 new cleft births in the UK each year. A cleft can significantly impact feeding, the development of speech, appearance, hearing and other aspects of a child’s development. A small proportion of children born with a cleft have genetic syndromes (30%), however around 70% of clefts arise due to a combination of genetic and environmental risk factors.

We’re proud to have worked with an expert team at the University of Bristol since 2012 to establish The Scar Free Foundation Cleft Gene Bank and Cohort Study – ‘The Cleft Collective’ – the first large scale cleft gene bank in the world, which is following participants up over several years and collecting long-term outcome data. The study collects biological samples of children born with a cleft as well as their parents, along with information on demographic, lifestyle, developmental, treatment, outcome and psychological data. The Bristol team started collecting data in 2013 and worked with NHS Cleft teams up and down the UK to recruit participants to the gene bank. In total, over 8,000 biological samples have been collected from 3,500 children, 2,500 mums and 2,600 dads of children with cleft making it one of the world’s largest biobanks.

After building up this vast bank of samples, the team at the Cleft Collective plan to analyse the genetic data in order to further our understanding of the causes of cleft.

The Scar Free Foundation was delighted to additionally fund a groundbreaking genotyping study, which enabled scientists to generate data on the genetic makeup of these children born with cleft and their mothers, and compare them with the DNA of 11,000 mothers and children from Bradford and Bristol who did not have cleft. Through the latest DNA chip technology, the Bristol team were able to generate data on 600,000 genetic variants on these DNA samples across different chromosomes. The aim was to achieve a better understanding of both genetic and non-genetic factors to help inform preventative measures in the future.

One of our Scar Free Foundation Ambassadors, Anna Hobbs, knows first-hand the impact that a cleft can have - her daughter Abi, 12, was born with a cleft of the palate.

“When people talk about cleft they think scarring on the lips, instantly. They forget the scarring both in the mouth and the personal scar of what the operations, hospital visits and the impact of just being ‘different’ have. This is why it’s so important for us to tell our story. Not only are we able to create awareness, but also ensure our voice is listened to and impacts clinical work taking place now. The Scar Free Foundation provides hope for the generation ahead of us, the work they are doing is so important and will impact so many lives.”

(read more on Anna and Abi’s story here)

The genotyping study has also identified modifiable risk factors which could be associated with cleft lip and palate by collecting information on parents’ demographic and lifestyle data such as nutritional factors, BMI, medication, smoking and alcohol intake.

The study will provide unprecedented insight into what causes cleft, the best treatments and how a cleft might affect a child as they develop.

Ten years of support and funding from The Scar Free Foundation has enabled us to establish this ground-breaking gene bank and move on to analyse the role of the mother’s, father’s and children’s DNA through the genotyping study – which is the first of its kind in the world. This will help improve patient outcomes and provides us with valuable data on preventative measures that we can advise people to take in the future. Our next step is to analyse the data we’ve collected in more depth, with the help of the Medical Research Council – that just wouldn’t have been possible without The Scar Free Foundation’s initial programmes and long term vision.”

Professor Sarah Lewis, University of Bristol

“As a medical research charity, we believe that collaboration is fundamental to successful future outcomes, so the Bristol team will be making their data available to research teams around the world – in fact, they’ve already been working with a group in Germany to share information. We’re sure that more analysis of this valuable study will lead to answers for families keen to establish the cause of their child’s cleft and the best treatment for patients – and will contribute to our overall aim of scar free healing within a generation.”

Brendan Eley, Chief Executive, The Scar Free Foundation