Disorders of Cornification Working Group

Research Goals

  1. Generate longitudinal data on the natural history, outcomes, and complications for the ichthyoses, with genotype-phenotype correlation.
  2. Develop evidence-based guidelines for the care of the neonate with ichthyosis.
  3. Formulate and evaluate potential therapeutic agents and biomarkers of response.

Background/Historical Perspective

The Disorders of Cornification (DOC) Working Group has individuals with over four decades of experience in the care and research of these disorders. It has grown 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, in which Group members discuss clinical and translational research questions. Many of the inaugural Working 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 and its impact.

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 Group meets twice yearly and represents investigators from multiple academic institutions.

Collaborative Research


Investigators interested in joining the Disorders of Cornification group may contact Mary Williams or Keith Choate, MD, PhD.