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Pediatric Dermatology Research Alliance

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        • PeDRA is an independent 501(c)(3) nonprofit organization driven by the mission to create, inspire, and sustain research to prevent, treat, and cure childhood skin disease.

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Genetic Skin Disorders

Genetic skin disorders include an array of conditions where small changes in a child’s genetic code affect the structure and function of the skin.  These diseases can affect families with no known history of disease, are difficult to screen for, and often result in devastating pain and reduced life expectancy. 

PeDRA’s Genetic Skin Disorders Working Group is divided into two overlapping subgroups of dedicated investigators:

  • Chaired by Keith Choate, MD of Yale University, the Disorders of Cornification Subgroup is engaged in the study of genetics, pathophysiology, and potential therapeutics for diseases such as ichthyosis and pachyonychia congenita.
  • Chaired by Anna Bruckner, MD of the University of Colorado, the Epidermolysis Bullosa (EB) Subgroup (also known as the EB Clinical Research Consortium) is focused on understanding the clinical characteristics and complications of EB and to establish a forum for the development of evidence based clinical care and coordinated clinical research.

Contact us if you’re interested in getting involved!

Active Studies

Access to Genetic Testing for Epidermolysis Bullosa

Characterization of Wound Microbes in Epidermolysis Bullosa

Epidermolysis Bullosa Clinical Characterization and Outcomes Database (CCOD)

Esophageal Strictures in Epidermolysis Bullosa Patients: Incidence, Management Strategies and Patient Outcomes

Gene Discovery and Genetic Diagnosis in Inherited and Mosaic Skin Disorders

Gorlin Syndrome (Basal Cell Carcinoma Nevus Syndrome) Clinical Registry and Genotype-Phenotype Correlation Study

Guidelines for Retinoid Use in Ichthyosis and other Disorders of Cornification

Patient-reported medical needs of adults with EB – Survey Study

Primary disorders of keratinization (DOK): Mutations and novel gene discovery

Publications

Feinstein, James A., et al. “Assessment of the Timing of Milestone Clinical Events in Patients with Epidermolysis Bullosa From North America.” JAMA Dermatology (2019)

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As research and studies increase in pediatric dermatology research, stay informed of relevant updates through our e-newsletter.

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