Biomolecular Analyses for Tailored Medicine in Acne iNversa

In this project FRRB finances partner number 7:  Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milano. The Principal Investigator responsible of the project is Dr. Angelo Valerio Marzano.

Pathology of interest:

Acne inversa

Area of research:


Start date:

May 2019

End date:

April 2022


€ 194.050,00

Project partners:

IRCCS Burlo Garofolo

Uniklinik Köln

Medical University Innsbruck

Université Paris Est-Créteil / INSERM U955- Mondor Institute For Biomedical Research (IMRB)

Centre National de la Recherche Scientifique

Jozef Stefan Institute

Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico


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.