PRIN 2022 - COD. 2022CLTAYH - "Vestibulodynia at high resolution: omics approach to improve diagnosis" - Finanziamento dell’Unione Europea – NextGenerationEU – missione 4, componente 2, investimento 1.1.

Vulvooowhat? Despite affecting 1 out of 8 women, vulvodynia is unknown to most people. Vulvodynia is, by recent definition, vulvar pain without an identifiable origin. When the pain and symptoms are limited to the vestibule, this is known as vestibulodynia (VBD), which is the most common form. VBD compromises, partially or totally, the sexual life of women and, depending on the severity, can affect other daily actions, such as urinating, sitting, wearing tights, doing sports, sometimes even walking. The VBD diagnosis is a “diagnosis of exclusion”, meaning that it is diagnosed when all the other possible diseases have been ruled out. VBD is not a rare disease, but it rather is a high frequency women’s health condition, neglected and hard to diagnose due tolack of diagnostic markers. This absence increases the diagnostic delay up to 7 years, thus 1) inducing a chronicization of the symptoms 2) worsening the symptoms and 3) strongly affecting the quality of life of patients, often condemning them to social isolation and severe depression. Taking in consideration previous studies that reported localized metabolomic alterations in vagina and vulvar vestibule rather than systemic effects, it is inexcusable that in the NGS era, there are no studies in the literature of the transcriptome of the vestibular cells. In order to fill this gap, we plan to perform transcriptomic analysis integrated with the state-of-the-art single cell omic analysis on vestibular cells from VBD patients and healthy controls to unbiasedly identify specific VBD markers. Moreover, considering the different pathogenesis and the range of symptoms and severity of the disease, with these markers we also aim at stratifying different groups of VBD, laying the foundation for a real personalized medicine. This analysis has never been performed on VBD patients with this global approach and at such high resolution. The results of our project will help the clinicians in VBD diagnosis, in therapy direction and in the earlier identification of patients with higher risk to develop chronic VBD, thus helping to build a preventive strategy to avoid the progression and chronicization of the disease. We are confident that with the completion of this project we will: Increase awareness of VBD Facilitate the VBD diagnosis Stratify VBD patients according to molecular features and medical history Accelerate the treatment Reduce the chronicization of the symptoms Improve patient quality of life Help the patients’ association in their legal battle to obtain the recognition of their disease from the SSN, thus reducing the cost each patient faces from the first symptoms to the diagnosis