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  Understanding psychiatric outcomes in children born with cleft lip and/or palate using genetics

   Bristol Medical School

  , , ,  Applications accepted all year round  Self-Funded PhD Students Only

About the Project


Cleft of the lip and/or palate is a common birth defect worldwide and occurs at a rate of one in 650 live births in the UK. Being born with cleft places a significant burden on children, their families and the health system as they require surgery (multiple times depending on cleft type), and other interventions to improve appearance, speech, hearing, dentition and other adverse outcomes. They are also at increased risk of psychological, psychiatric and cognitive problems [1]. The UK-based Cleft Collective is a unique resource comprising the world’s largest cohort study of individuals affected by cleft and their families [2]. Rich longitudinal information is collected on the children’s mental health, parental, prenatal and early life factors as well as genetic data, providing unique opportunities to study genetic as well as environmental influences on risk of development of mental health conditions over time.

The PhD project will provide the first detailed description of neurodevelopmental and mental health outcomes in children with cleft and examine the contributions of genetic and environmental factors. We will use two unique genetically informative clinical cohorts of children; the University of Bristol Cleft Collective and the Cardiff University longitudinal ExperiencCes of people witH cOpy number variants (ECHO) study. Control samples will consist of the Avon Longitudinal Study of Parents and Children (ALPSAC) and the Millennium cohort which are deeply-phenotyped cohorts of typically developing children.

Aims and Objectives

The aims of the study are:

1) To improve understanding of risk of neurodevelopmental and mental health outcomes in children born with cleft. This will be achieved by comparing children born with cleft to those at high genetic risk of neurodevelopmental and mental health outcomes but without cleft (children from the ECHO study) and typically developing children.

2) To improve understanding of the causes of neurodevelopmental and mental health outcomes in children born with cleft. This will be achieved by determining in children born with cleft the contribution of: a) composite genetic (polygenic) risk scores for neurodevelopmental and psychiatric disorders and b) rare genetic mutations.

3) To improve understanding of non-genetic factors, the project will also examine contributions of early developmental problems, family socio-economic status, family relationship quality, and traumatic experiences to risk of childhood psychiatric disorders in children born with cleft.


This multidisciplinary project will integrate expertise across cleft, genetic epidemiology, psychiatry, and epidemiology. Advanced epidemiological methods will be applied to study repeated measures and compare outcomes across cohorts. Copy Number Variants (CNVs) and other rare variants will be identified in children from the Cleft Collective and compared with mutations identified in children with neurodevelopmental disorders and children from the general population. Genetic epidemiological methods, such as polygenic risk scores, will be used to study the contribution of common variants and causally informative designs will be employed to test the causal link between cleft and mental health problems. The candidate will have the opportunity to develop into one of few experts globally with in depth understanding across these fields. The project will include training in advanced epidemiology, genetic epidemiology, bioinformatics and a mini-MD in the MRC Centre for Neuropsychiatric Genetics and Genomics at Cardiff.

How to apply for this project

This project will be based in Bristol Medical School - Population Health Sciences in the Faculty of Health Sciences at the University of Bristol.

If you have secured your own sponsorship or can self-fund this PhD please visit our information page here for further information on the department of Population Health Science and how to apply.

Biological Sciences (4) Medicine (26) Nursing & Health (27) Psychology (31)


[1] doi: 10.1016/j.jaac.2018.06.024
[3] doi: 10.1038/s41380-020-0654-3
[4] doi: 10.1371/journal.pgen.1007501
[5] doi: 10.1016/S2215-0366(19)30123-3

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