Haifa El Mabrouk

I am a researcher in human molecular genetics, functional genomics, and molecular and cellular biology, with more than six years of research experience in rare inherited diseases and translational biomedical research. My research focuses on understanding how disease-associated genetic variants affect molecular, cellular, and tissue functions. I have particular expertise in inherited skin disorders and epidermolysis bullosa, with experience spanning human genetic analysis, RNA processing and splicing, protein expression and homeostasis, cellular phenotyping, and tissue-level investigation using patient-derived biological material and cellular models. I am also interested in the functional characterisation of genetic variants and in understanding how molecular defects can be targeted therapeutically. My research experience includes the experimental evaluation of nonsense mutation readthrough strategies and the investigation of molecular mechanisms underlying differential therapeutic responses. In addition, I have contributed to research in oncogenetics and cutaneous melanoma. I completed my PhD in Biological Sciences and Biotechnology at the University of Monastir, Tunisia, followed by postdoctoral research in Molecular Dermatology at the University Medical Center Freiburg, Germany. My broader research interests include functional variant characterisation, human disease modelling, molecular mechanisms of genetic disorders, and the development and evaluation of therapeutic approaches for genetically driven diseases.