With numerous new contacts, ideas and a lot of motivation in their luggage, the EB House staff returned to their desks or laboratory benches after the congress.

The international EB Congress, which combines a research conference, a clinical conference and this year for the first time the patient conference, takes place approximately every two years. In autumn 2017 this congress was organised by EB House staff in Salzburg, now it took place in the capital of Great Britain. From 19-23 January 2020, more than 700 scientists, doctors and therapists, as well as people affected by EB and their relatives, came to London. A delegation of researchers, physicians and staff from the EB House academy also attended this congress.

The first two days were devoted to EB research. Among the leading researchers in this field, Priv. Lecturer Dr Ulrich Koller, head of the Koller working group at the EB House, gave an inspiring lecture on gene therapy using the new CRISPR / Cas technology. A CRISPR / Cas-based approach for the targeted correction of disease-related inherited damage in collagen 17 genes was discussed. Genetic changes in the collagen 17 gene are responsible for the junctional form of EB. With the presented approach it was possible to restore the collagen 17 protein in treated patient cells. Their functionality and possible side effects of the treatment should subsequently be verified using molecular biological analyses. Dr Christina Guttmann-Gruber (head of the Piñón / Gruber working group) gave a poster presentation about a vitamin D ointment developed in the EB House and its effect on wound healing in EB. A first clinical study showed that this ointment can accelerate wound healing and also reduce itching. This is particularly remarkable and is a great relief for our patients, for whom itching is a major burden in everyday life. Prof. Bauer showed his expertise in the field of EB in two short talks.

The third day of the conference was opened by Sophie Kitzmüller, head of the EB Academy and of the international clinical network EB-CLINET. She explained the goals of this network and gave a short update on the recent developments. This third day was mainly devoted to the clinical and medical care of people with EB. EB is a multi-system disease and therefore poses many challenges, such as itching, pain, skin cancer and fusion of the fingers and toes. The treatment of people living with EB has improved due to clinical practice guidelines on some of these topics, since information on new findings in therapy has been bundled and made easily accessible.

The fourth and last day of the conference was particularly aimed at people living with EB and their relatives. In lay terms, scientists summarized the findings of the first two days with regard to gene, protein and cell therapy and the topic of the clinical studies was also of great importance on this day. Clinical studies for EB are becoming increasingly relevant and require the active participation of those affected. Dr Christine Prodinger, EB physician at the EB House Austria, gave a lecture on the challenges that these studies pose. Participating in these studies demands a great deal of patients due to frequent study visits, invasive examinations and precise documentation. Clinical teams are faced with many organisational challenges and have the task of presenting the scientific background of the studies in a language that is easy to understand, in order to support the patient in making an informed decision. A few talks were also given by people affected by EB and they gave inspiring lectures about dreams that they could achieve despite the illness (e.g. a parachute jump) or the importance of sport despite EB.

The organisers had a surprise for some of our researchers on Monday evening: Three posters were awarded at the “Best Clinical Posters” Awards. We congratulate Dr Christina Guttmann-Gruber from the EB House Austria and DDr Gudrun Salamon from the Sigmund Freud University very warmly. Dr Christine Prodinger’s poster from the EB House even received the 1st prize at the Poster Awards including prize money. Congratulations!