Prof Cristina Has

Institution(s): Universitätsklinikum Freiburg

Research focus: My research is mainly focused on the genetic basis and on the molecular mechanisms of skin fragility.

What are your own areas of research, and what insights do these give you on EB?

With my group, I identified new EB associated genes and mutational mechanism, and contributed to the illumination of the molecular pathology of EB. Furthermore, I am a clinician taking care of people with EB. My research helps me to get a deeper insight into how EB affects the skin and other organs of the body, and how therapies could alleviate the disease severity.

Where do you see the biggest contributions research can make to improving options for people with EB? 

Research can help us understand the impact of EB on skin, on other organs and on the entire organism. With this knowledge, therapeutic strategies can be designed. The main aim is to support regeneration of the cutaneous organ, primarily by a combination of cell and gene therapy. The precise genetic defect in each patient, will dictate if more specific approaches, such as mutation-specific DNA/RNA repair, can be used. Furthermore, understanding how tissue homeostasis is disturbed, including stem cell maintenance, microbial defense, inflammatory reactions, will allow the development of targeted supportive treatments.

What are the current most urgent research questions, both in basic knowledge and translational research?

Clinical and basic EB research are quite advanced. By now, it is clear that gene therapy is extremely effective in some types of EB. It should be a major aim to support the implementation into the clinic, by creating banks of cells of the patients, mutational databases and by collaboration with pharma companies.

On the other hand, deeper research of disease mechanism should be carried out on samples from patients using modern omics technologies. If patients understand this need and contribute to such studies, this will be much more effective than creating models.

Clinical research should be also supported in particular international collaboration on natural history studies.

DEBRA and EB Resnet members are grateful for your dedication to helping people with EB; what do you find rewarding about being a member  of EB MSAP Expert Panel? 

I am very grateful for being a member of MSAP because it gives me the opportunity to learn and bring my contribution to the development of EB research. Beside the sessions in which we discuss the grants, meetings to discuss the visions on EB research and to exchange ideas would be welcome.