26/04/2026
April, 2026
In this phase of the research work, we are directing our activities towards the study of the interactions and correlations existing between rare genetic disorders and the psychological profiles of predisposed individuals.
Beyond the nosographic and molecular dimensions, our aim is to extend the analysis to the psychopathological trajectories that may emerge in the presence of genetic vulnerabilities.
Behavioural genetics, transdiagnostic psychopathology and epigenetics once again prove to be fundamental to understanding the extent to which biological predisposition modulates the individual response to life events, stress and adaptive processes.
Preliminary observations, still in an exploratory phase, confirm that the presence of a rare genetic condition does not translate in a clear and linear manner into psychopathological outcomes, but rather interacts in a complex way with environmental, relational and intrapsychic factors. Indeed, models of differential vulnerability emerge, in which individuals with a similar genetic condition exhibit profoundly divergent psychological outcomes.
Epigenetic mechanisms appear plausibly involved in processes of phenotypic modulation, including behavioural and emotional aspects.
In some cases (to be conceived as an emerging interpretative hypothesis) we have identified a particular form of “implicit genetic awareness”. The individual, despite not necessarily possessing explicit knowledge of their own condition, appears able to organise cognitive and emotional structures around an internal perception of vulnerability, with consequent effects on the sense of self, life expectations and relational patterns.
This latter aspect remains underexplored in the literature, but may belong to that plurality of elements contributing to the mechanisms of identity construction, role formation and representations, including pre-reflective ones, of one’s own body and biological inheritance.
This reinforces the need for the adoption and application of integrated and rigorously personalised approaches, capable of combining biological/genetic precision with the depth of clinical analysis.
Further updates will follow as the research activities progress.
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