Historically, craniofacial genetic research has understandably focused on identifying the causes of craniofacial anomalies and it has only been within the last 10 years, that there has been a drive to detail the biological basis of normal-range facial variation. This initiative has been facilitated by the availability of low-cost hi-resolution three-dimensional systems which have the ability to capture the facial details of thousands of individuals quickly and accurately. Simultaneous advances in genotyping technology have enabled the exploration of genetic influences on facial phenotypes, both in the present day and across human history. There are several important reasons for exploring the genetics of normal-range variation in facial morphology.
- Disentangling the environmental factors and relative parental biological contributions to heritable traits can help to answer the age-old question “why we look the way that we do?”
- Understanding the aetiology of craniofacial anomalies; e.g., unaffected family members of individuals with non-syndromic cleft lip/palate (nsCL/P) have been shown to differ in terms of normal-range facial variation to the general population suggesting an etiological link between facial morphology and nsCL/P.
- Many factors such as ancestry, sex, eye/hair colour as well as distinctive facial features (such as, shape of the chin, cheeks, eyes, forehead, lips, and nose) can be identified or estimated using an individual’s genetic data, with potential applications in healthcare and forensics.
- Improved understanding of historical selection and adaptation relating to facial phenotypes, for example, skin pigmentation and geographical latitude.
- Highlighting what is known about shared facial traits, medical conditions and genes.
This project will be an advancement on a previous studies undertaken at 15 years of age which has yielded a series of landmark articles. The 15 year old cohort will be recalled at 30 and 3D facial images will be collected for as many of the original 4747 15 year old faces as well as their mothers/fathers and their own offspring.
The computer generated 3D facial images/shells will be important in exploring:
- the link between normal variation and craniofacial anomalies
- heritability of facial features (e.g. overall face size/shape and local features nose, lips chin etc)
- Environmental and shared genetic influences on facial shape and reported medical conditions
- Facial ageing from 15 to 30 years of age
- Forensic science relating to identification of facial types from genetic data
- Engagement of the ALSPAC family in deriving relatedness in parents and offspring
- Enable the research team to lead and collaborate with other international cohort studies/cleft lip and palate/craniofacial anomalies/normal facial variation and shared genetic consortia.

There has been significant progress in the first 6 years of GWAS and facial genetics. With increased sample sizes, improved understanding of shared genetic influences on human traits and advancement in techniques there is likely to be significant further progress in the next 6 years. Understanding the face will explain “why we look the way we do” a range of normality and abnormality that
will be useful in a large number of healthcare applications and forensic science.