- To advance the understanding of inherited disorders, including their pathogenesis, course, and impact on those affected
- To develop corrective therapies that can ameliorate the negative effects of these disorders
At the inaugural PeDRA Annual Conference, the Genodermatoses Workgroup was formed to bring together investigators interested in studying inherited disorders impacting the skin. The obstacles in obtaining genetic testing for syndromes were raised, and the need for additional advocacy work to overcome this challenge emphasized. The Epidermolysis Bullosa Clinical Research Consortium (EBCRC) is currently the main North American network for researchers who are interested in the genetic disorder, epidermolysis bullosa (EB). The Epidermolysis Bullosa Medical Research Foundation and The Jackson Gabriel Silver Foundation have joined their resources to support its development. An international database has been created for the clinical characterization of EB and to establish a forum for development of evidence based clinical care and coordinated clinical research. The goal of the EBCRC is to advance knowledge about EB and improve outcomes for affected children and adults through excellence in collaborative care, research, education, and advocacy. Objectives include conducting synchronized clinical and translational research in EB, such as longitudinal studies about disease course and complications of EB, outcome studies, molecular and genetic characterization of patients, and clinical trials of emerging therapies for EB. The initial members have records of accomplishment for developing centers of excellence in EB care. Basal Cell Carcinoma Nevus Syndrome (BCCNS) is another disorder needing additional study, including determination of the natural history of BCCNS in children and the efficacy and safety of treatments in the pediatric population.
Current Subgroups and Contacts
EBCRC – Contact – Anna Bruckner, MD
Basal Cell Carcinoma Nevus Syndrome (BCCNS) – Joyce Teng, MD, PhD; Kristi Schmitt Burr (BCCNS Life Support Network)