Evolutionary Medicine

PI: Marco Sazzini
The theoretical and methodological frameworks proposed by an anthropological evolutionary approach to the study of human diseases aim at clarifying the causative relationships between our evolutionary history and present-day patterns of disease susceptibility with the final goal of explaining why our species is prone to develop certain pathological conditions.

During the recent evolutionary history of H. sapiens, populations inhabiting different regions of the world have developed specific biological and cultural adaptations to cope with peculiar environments. However, the ecological and cultural contexts in which they evolved for thousands of years have rapidly changed in the modern era, occurring in a timeframe that is incompatible with that of evolutionary processes, so that our genome was not able to properly adapt to the new conditions. Such a mismatch recently arisen between some adaptive traits previously shaped for millennia by natural selection and modern lifestyles could have triggered their shift into maladaptive ones, thus underlying increased disease susceptibility of certain human populations.
By exploiting a multidisciplinary approach that conjugates competences from Molecular Anthropology, Evolutionary Biology and Medicine, we thus aim at investigating the genetic legacy of different selective pressures on human populations and at correlating them with diffusion patterns of specific pathological phenotypes that could be thus modeled as by-products of past selective events on loci now become detrimental. This promises to shed new light on the crucial medical implications of the adaptive processes occurred during the recent evolution of our species and to disentangle the evolutionary mechanisms that account for present-day differences in disease susceptibility among worldwide human groups, explaining what makes some of them more prone to the side effects of modern lifestyles.


Using evolutionary models to elucidate the regulation of physiological responses to hypoxia
Fondazione CARISBO 2020 Grant: Genetic adaptation and acclimatization to high altitude as experimental models to investigate the biological mechanisms that regulate physiological responses to hypoxia

Mapping the distribution of dis-adaptive alleles in Native and Admixed Mexican populations
Mexican Consejo Nacional de Ciencia y Tecnología 2019 Grant for Claudia Ojeda Granados postdoctoral fellow: Fine-mapping of potential disadaptive genetic variants, evaluation of their biological relevance and correlation with disease prevalence in Native and Admixed Mexican populations

Inferring local adaptations and dis-adaptive processes in Native Mexican populations
Mexican Consejo Nacional de Ciencia y Tecnología 2018 Grant for Claudia Ojeda Granados postdoctoral fellow: Inferring genetic adaptations to local environments in Mexican populations and identifying potential dis-adaptive loci predisposing them to chronic complex diseases

Depicting the genomic landscape of pulmonary hypertension
Fondazione CARISBO 2016 Grant: Next-generation sequencing in the evaluation of the genetic profile associated to pulmonary hypertension

Reconstructing the adaptive (and dis-adaptive) evolution of the Italian population
Pfizer International 2011 Grant: A genome-wide association study of Psoriatic Arthritis in the Italian population