This doctoral research lies at the crossroads of biological and medical anthropology, adopting an interdisciplinary approach that integrates paleoanthropology, paleoimaging, and neurology. The project focuses on Moyamoya disease, a rare cerebrovascular disorder characterized by progressive stenosis of the terminal carotid arteries, variably compensated by the development of intra- and extracranial collateral networks involving the external carotid system. The central objective is to identify specific cranial morphological traits that may be implicated in the clinical severity of the disease and to explore their potential functional and evolutionary significance.

The study is based on a retrospective cohort of 75 patients diagnosed with Moyamoya disease, for whom existing medical imaging data will be systematically analyzed. Three-dimensional reconstructions and morphometric analyses will be performed to characterize endocranial imprints, with a particular focus on the venous and meningeal networks, the foramina of the skull base – especially the carotid and spinosum foramina – and overall cranial thickness. These findings will be compared with documented fossil Homo sapiens specimens from diverse geographical origins, analyzed through imaging, in order to establish qualitative and quantitative comparative frameworks.

We hypothesize that Moyamoya disease may present distinct cranial radiological signatures that correlate with clinical severity. Their comparison with fossil data could help elucidate whether such traits reflect functional adaptations and provide insights into the evolutionary history of cerebral vascularization and brain morphology.

Beyond its immediate medical implications, this research holds broader scientific and societal value. It offers a renewed interpretation of endocranial imprints, which are rarely correlated with contemporary clinical data, and refines paleoanthropological perspectives on brain vascularization and function through the lens of clinical imaging. More broadly, it illustrates how rare pathologies can illuminate aspects of human evolutionary biology and underscores the relevance of interdisciplinary collaboration between medical sciences and the humanities.

Source: https://journals.openedition.org/bmsap/1670

This research will be presented by Dr Bernat at the 2026 Meeting, which will take place from January 28 to 30, 2026, at the University of Geneva, in the Grand Auditoire de Physique – École de Physique (24 quai Ernest-Ansermet, Geneva). This presentation will provide an opportunity to share the results of this interdisciplinary study with the international scientific community. More information here

Anne-Laure BERNAT