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!