Unlocking the Genetics of Orofacial Clefts: A Groundbreaking Research Project

Genetic, phenotypic and cellular investigations into orofacial clefting.

Lead researcher: Wendy Jones

Institution: North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children

Project Start Date: October 2025

Orofacial clefts (OFCs), including conditions like cleft lip, cleft palate, and Pierre Robin sequence (PRS), are some of the most common congenital abnormalities worldwide. But what causes these conditions, and how can we better understand them? A new research project is diving deep into the genetics behind OFCs to uncover answers that could improve care and even prevent future cases.

Why This Research Matters

For individuals born with an OFC, understanding the genetic cause can be life-changing. It allows families to understand why the cleft occurred, receive tailored medical care, and gain clarity about the chances of recurrence in future pregnancies.

However, the genetic causes of OFCs aren’t fully understood yet. While some single-gene causes (called monogenic causes) have been identified, many remain undiscovered. This research aims to close that gap and explore whether these genetic factors may also highlight unmet health needs in affected individuals.

The Role of a Comprehensive Genetic Database

At the core of this project is a powerful genetic database that catalogues variations found in individuals with developmental disorders. With information from nearly 50,000 patients, this resource enables researchers to identify specific regions of the genome that may be associated with OFCs.

Key Goals of the Research

Discover New Genetic Causes: The project will search for genetic variations (like missing or extra pieces of chromosomes) that could be responsible for OFCs.
Understand Health Impacts: By identifying these variations, researchers hope to better understand the broader health needs of affected individuals.
Explore Preventative Possibilities: Insights from this research could lead to interventions, like supplements during pregnancy, to reduce the risk of clefts in the future.

How It Works

The research team will study genetic data from thousands of individuals with cleft-related conditions, including:

Cleft palate
Cleft lip and palate
Pierre Robin sequence

By analysing patterns in the data, they aim to identify specific genes or regions of the genome linked to these conditions. For example, they’ll look at areas where genetic deletions are common among individuals with clefts.

What Makes This Project Unique?

The researchers are using a variety of advanced tools and techniques, including:

Genome Browsers: To identify “hotspots” in the genome where variations are linked to clefts.
Gene Analysis: To study how specific genes function and whether they’re active during crucial stages of facial development.
Model Systems: Using zebrafish and other models to explore how genetic changes affect craniofacial development.

The Big Picture

This isn’t just about understanding why clefts happen—it's about making a difference. The findings could lead to better support for individuals with clefts and their families, and even open doors to preventative care for future generations.

By funding this research, we’re taking a step closer to solving the puzzle of orofacial clefts and creating a world where fewer families are affected by this condition.

Stay tuned as we follow the progress of this exciting project!

Latest

Javid's 10k Fundraising Run

My son Elvin was born with a cleft lip in 2024. But thanks to the NHS, we got world class care and the result was unrecognisable. Sometimes we remember the fact that he used to have a cleft and we miss his huge carefree cleft smile. But unfortunately not every child has access to the same professional support. It is Elvin's 2nd birthday this week, so I thought this would be the perfect opportunity to run 10k fundraising for CLEFT - to help other children across the world, bridging the gap.
LF1 Cleft Charity

We are raising money with the LF1 division of the Cleft Charity at Charles University, Prague, to support sustainable, long-term improvements in cleft care. Through fundraising and awareness initiatives at LF1, we aim to contribute to the main UK Cleft Charity’s mission of improving access to cleft treatment, multidisciplinary care, and support services for patients and families both in the UK and internationally.
London Marathon 2027

1.33 million people applied for the London Marathon 2027. For the first time ever CLEFT has a guaranteed place. We are looking for someone incredible to run the London Marathon for CLEFT. Could that person be you?
Sarah’s 10K for Cleft UK

I am raising money to provide long-term, sustainable ways to improve cleft care both in the UK and overseas.

Donate to CLEFT

You can make a one-off donation today or sign up to giving a regular monthly gift. All donations, small or large, will help us to improve the lives of those born with cleft lip and palate both now and in the future.
National Institute of Burns and Plastic Surgery

We are working with Bangladeshi specialists at the new National Institute of Burns and Plastic Surgery to create a sustainable centre to treat children with cleft lip and palate.
Our mission

CLEFT was established in 2007 with one aim, to help improve the lives of children born with cleft lip and palate, either by funding research into the likely causes of the condition or by helping support teams in lower and middle income countries.
Nawrin and the C-Arm

This important piece of equipment was supplied by CLEFT and is used to see moving images of the cleft palate. Nawrin is a 13 year old girl who was experiencing speech difficulties and needed the C-Arm to show the cleft team if further surgery was required.
About us

CLEFT was established in 2007 by cleft surgeon Brian Sommerlad - based at Great Ormond Street Hospital for Children, together with a former patient and a patient's grandmother.
The genetics of cleft lip and palate

Investigations into the genetics of cleft lip and palate to understand more about why cleft lip and palate occurs.
Brian Sommerlad, Consultant Plastic Surgeon and Chair of Trustees

For over 40 years, I have been involved in operating on babies, children and adults who have been born with cleft lip and/or palate.
Our research vision

At CLEFT, our vision is of a future where clefts are preventable. Until we get there, we want to improve the lives of those born with cleft lip and palate.
Trusts and Foundations

Today, 1-in-700 babies in the UK are born with a cleft lip and palate, the most common form of birth defect. The impact on a child’s life as they grow is profound. Typically, they will need at least four operations. They may also require ongoing tests, treatment or therapy. It will affect the way they look but also their speech, hearing and dental development. It can leave deep psychological scars.
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