1. Advance the understanding of inherited disorders, including their pathogenesis, course, and impact on those affected
2. Develop evidence-based guidelines for care of affected individuals
3. Develop corrective therapies that can ameliorate the negative effects of these disorders, along with markers of response.
At the inaugural PeDRA Annual Conference in 2013, the Genetic Skin Disorders Study Group 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.
Disorders of Cornification
The Disorders of Cornification (DOC) Study Group has individuals with more than four decades of experience in the care and research of these disorders. The group grew within the Foundation for Ichthyosis and Related Skin Types (FIRST), an organization engaged in advocacy, patient support, and funding for basic and clinical research. FIRST conducts biennial national and yearly regional family meetings, at which study group members discuss clinical and translational research questions. Many of the inaugural study group members have worked with FIRST as medical faculty at meetings and have recently collaborated in a comprehensive study of genotype-phenotype correlations in disorders of keratinization. The Pachyonychia Congenita Project (PC Project) has also worked with DOC members to study PC and its impact.
With this background, DOC investigators came together at the inaugural PeDRA Annual Conference in 2013 and brought the existing work into the collaborative framework that PeDRA offered. Now, DOC investigators and fellows are engaged in the study of genetics, pathophysiology, and potential therapeutics for disorders of keratinization. The investigators have expertise in evaluation and management of disorders of keratinization, as well as running referral centers for the study and treatment of these disorders. Their work together has led to the identification of two new genes for disorders of keratinization, new pathogenesis-based therapy for CHILD syndrome, and efforts to use siRNA for the treatment of genetic skin disease. The Study Group meets in-person twice yearly and represents investigators from multiple academic institutions.
The Epidermolysis Bullosa Clinical Research Consortium (EBCRC) is currently the main North American clinical research 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 EBCRC’s development and activities. The Consortium launched an international database to better understand the clinical characteristics and complications 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. There are more than 500 patients enrolled in the EB Clinical Characterization and Outcomes Database (CCOD). CCOD. The initial members have records of accomplishment for developing centers of excellence in EB care.
EBCRC investigators initially came together in 2010 and launched the CCOD in 2011. The inaugural PeDRA Annual Conference in 2013 brought the existing EB work into the collaborative framework that PeDRA offered.
Anna Bruckner, MD
Basal Cell Carcinoma Nevus Syndrome and Other Genodermatoses
Most patients with basal cell carcinoma nevus syndrome (BCCNS) are diagnosed between 17 and 35 years of age. Our research goal is to establish a centralized clinical database to enroll pediatric patients during early childhood. The registry will collect information including genotyping, disease progression, surveillance, and interventions. Our objective is to improve the understanding of genotype-phenotype correlation of the disease as well as its manifestation and responses to interventions. We hope this coordinated effort will advance our knowledge about BCCNS that will lead to early diagnosis, improved interventions, and better outcomes. There has been exciting development of therapeutics for basal cell carcinoma and BCCNS in adults. The safety of such new therapy options can only be evaluated in pediatric patients through collaborative research.
Joyce Teng, MD, PhD; Kristi Schmitt Burr (BCCNS Life Support Network)