An original and unexpected study developed between the most rigorous anatomy and the beauty of artistic expression is enclosed in a publication first published by Giorgia Girotto, professor of Medical Genetics at the University of Trieste and the Burlo Garofolo research hospital that, together with her research group, has created a work that offers a reinterpretation of aesthetics in the history of art.

For centuries, the concept of beauty in visual art has been identified with what satisfies one’s taste, as opposed to what is seen as ugly, often understood as an emblem of disharmony, the result of an ‘imperfection’ or of ‘something missing’, long associated with ‘evil’ or ‘vice’. But imperfection is inherent in the human dimension.

‘Genio e geni. Lettura Clinica delle opere d'arte’ (genius and genes. Clinical reading of works of art) stems from the deep conviction that it is possible to look at art, in particular the pictorial art of past centuries, with a scientific method and a clinical eye. The team of geneticists has researched in the works of the masters those morphological alterations - dysmorphisms or physical defects - that the artists have portrayed over the centuries, hypothesising a molecular explanation for them.

The result of this meticulous investigation is a computerised catalogue of more than 800 works. The key used is not that of the traditional art critic, but precisely that of the geneticist. Girotto’s team analysed these depictions in search of anomalies and malformations, cataloguing them through the Human Phenotype Ontology (HPO), the international vocabulary used to classify all the characteristics and physical defects of human pathology. 

The scientists looked at the canvases with a particular focus on identifying the ‘imperfections’ they daily recognise and diagnose in their clinical practice.

The book reveals that imperfection is a persistent theme, often a clear expression of a genetic disease, present in works of art of every era. Readers will be guided through an unexpected journey of discovery, learning to recognise signs of imperfection even in universally known masterpieces, such as Leonardo Da Vinci’s Mona Lisa or Botticelli’s Venus.

The work is not limited to a retrospective diagnostic exercise. It challenges the very concept of perfection, something that medicine, and in particular medical genetics, showed does not really exist in reality. The diversity, and sometimes the imperfection, lies in the 0.1% residual of our genome, amounting to about 3.2 million bases, which makes each one a ‘unique and special being’.

At a time when society has great difficulty in accepting what is different and imperfect, and when aesthetic standards are standardised by surgical and digital touch-ups, this study offers an opposite representation, often strong and dramatic, but nevertheless ‘real’.

The project of Girotto and her team achieves several goals: it represents a fundamental contribution to the promotion of iconodiagnostics as a teaching tool, which, combined with recent knowledge in the field of genetics, makes it possible to formulate diagnostic hypotheses on the conditions portrayed. This step is essential not only to better interpret the works of the past, but also as a first step towards personalised medicine. 

In addition, the study proposes itself as a clinical-assistance tool to make sense of events and ward off suffering, telling the story of certain genetic diseases and demonstrating that they were accepted since antiquity.

In conclusion, the unified vision between art and medical science, such as that promoted in this volume, aims to teach people to go beyond physiognomy, with the awareness that diversity can be a source of wealth. As Van Gogh suggested, it is up to us to ‘turn our imperfections into perfections.’ This work invites the reader, whether it is a large audience or a colleague, to ‘play’ and participate, trying to recognize the imperfection and reconstruct the story that each character preserves.