Biomolecular Analyses for Tailored Medicine in AcneiNversa (BATMAN)

Acne Inversa (AI) is a chronic inflammatory disease involving hair follicles that imposes a major physical and psychological burden on patients with significant costs for health systems. Genetic variants affecting different pathways result in wide spectrum of AI phenotypes and tracking gene variants is essential to design personalized treatments. The proposal aims to bring together medical, genetic, experimental and lifestyle data to create holistic health records (HHR), which will allow us to build a personalized model of each patient and to tailor specific treatments based on their personal characteristics. Research on animal or cellular models will be harnessed to validate hypotheses on genetic variants, generating useful information with immediate translational impact on patient stratification and therapeutic options, and also providing a wide-scale overview of previously identified and novel risk markers. DNA will be obtained from AI cases from 3 different locations in Europe. Data will be compiled from whole exome sequencing, whole genome genotyping SNPs arrays and transcriptomic signatures of hair follicle cells and novel mouse models. Genomic information will be merged with clinical evaluations and lifestyle data by advanced machine-learning and data mining algorithms. By the end of the project, our consortium intends to: identify genetic variants associated with AI susceptibility, severity and response to treatment design in vivo and in vitro models for investigations on the main biological pathways affected by AI and testing the impact of genetic variants on immune and cutaneous cell biology produce an HHR to complement medical record by developing a smartphone application to remotely monitor the physical and psychological wellbeing of patients and advise them on physical activity and dietary and smoking habits propose novel stratification methods that clinicians can use to assess severity, choose the therapy and follow the outcome

Acne inversa is a chronic inflammatory disease involving hair follicles that presents with painful nodules that release pus and result major disease burden for patients and costs for health systems. Genetic variation in various molecular pathways is the basis of Acne inversa phenotype variability. It is essential to characterize these variations in order to develop in new therapeutic approaches. Major achievements of the present project include the discovery of novel causative mutations and biological pathways involved in Acne inversa etiopathogenesis. Moreover, hair follicle organize from induced pluripotent stem cells were established, creating a source of keratinocytes peering the same mutation as patients. Finally, novel mechanisms of abnormal inflammation in Acne inversa-patients was described.