Neus Martinez-Abadias

How did facial shape evolve in modern humans? Anthropological research has revealed the patterns of hominin facial diversification, and recent studies are unveiling the genes underlying facial shape variation. However, we still do not understand the role of development in the expression of the facial phenotype. Here, I propose to build a phenotype-genotype map of facial shape variation in diverse and underrepresented populations. I will use facial 3D models and whole-genome genotype data from samples already collected in highly admixed Latin-American populations (Colombia and Brazil), and a comparative European sample (Spain), to asses how sex, age, and genetic ancestry influence facial shape within the continuous spectrum of common and pathological variation. The expected results from this project will improve our understanding of human facial shape variation, but will also have a biomedical impact. If we detect that sex, age and/or genetic ancestry significantly interact to produce disease outcomes, they will underscore the need to develop unbiased sex and population-specific diagnostic methods for rare disorders. It is timely that biological anthropological approaches are incorporated into biomedical research to develop more sustainable approaches to address human variation and to reduce inequalities, providing methods that are equally efficient for males/females in world-wide populations.