Therapeutic Approaches to Genetic Skin Diseases: Recessive Dystrophic Epidermolysis Bullosa (RDEB) as the Prototype
Einstein-Montefiore Department of Medicine Grand Rounds
Thursday, October 28, 2010
Forchheimer 1st Floor Lecture Hall, Einstein
repeated at 12:15 pm
Cherhasky Auditorium, Montefiore
David Woodley, MD
David T. Woodley, MD
Professor Professor of Dermatology
Chair, Department of Dermatology
Director, Dermatology Residency Training Program
University of Southern California
Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen. On the basis of preclinical data showing biochemical correction and prolonged survival in col7 -/- mice, Dr. David Woodley's group recently hypothesized that allogeneic marrow contains stem cells capable of ameliorating the manifestations of recessive dystrophic epidermolysis bullosa in humans. As reported in an NEJM article of just a few weeks ago, between October 2007 and August 2009, they treated seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and allogeneic stem-cell transplantation. One patient died of cardiomyopathy before transplantation. Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduction in blister formation between 30 and 130 days after transplantation. Five recipients were alive 130 to 799 days after transplantation; one died at 183 days as a consequence of graft rejection and infection. The six recipients had substantial proportions of donor cells in the skin, and none had detectable anti-collagen-VII antibodies.
Dr. Woodley’s scientific interests include type VII collagen, keratinocyte motility, wound healing, keratinocyte-derived collagenases, autoimmune bullous diseases, and hereditary dystrophic epidermolysis bullosa. He has served on numerous American Academy of Dermatology committees, the Board of Directors of the Society for Investigative Dermatology, the Board of Directors of the California Dermatology Society, and the Board of Directors of the LA Metropolitan Dermatology Society. He has been elected to the American Society of Clinical Investigation (ASCI), the American Dermatological Association (ADA), and the Association of American Physicians (AAP). Six NIH RO1 grants, one Challenge Grant, and one VA Merit Review Grant support the USC Laboratory for Investigative Dermatology.
Dr. Woodley is the author of over 200 original articles and is a clinician-investigator with continuous NIH funding since 1982. He is the co-editor of a book entitled The Biology of Skin with Dr. Ruth Freinkel and serves as an associate editor of The Journal of the American Academy of Dermatology, of The Archives of Dermatology, and of Clinical and Experimental Dermatology and Dermatology.
Dr. Woodley completed his undergraduate degree in English Literature at Washington University in St. Louis and his medical school education at the University of Missouri in Columbia, Missouri. He completed his dermatology residency training at the University of North Carolina in Chapel Hill, North Carolina. He then completed a dermatology research fellowship in the laboratory of Dr. Michel Prunieras at the Rothschild Foundation and University of Paris in Paris, France. He served as an expert investigator at the National Institutes of Health for three years and then returned to Chapel Hill as an assistant professor of Dermatology. He left Chapel Hill in 1989 to be Professor and Associate Chair of the Department of Dermatology at Stanford University. In 1992, he was appointed the Walter Hamlin Professor and Chair of Dermatology at Northwestern University. In 1999, he joined the medical faculty at the Keck School of Medicine of the University of Southern California (USC) and in 2004, he assumed his current position as Founding Chair of the USC Department of Dermatology.
Post-lecture webcast: www.medicinegr.org.
For access code contact Mildred Rodriguez, email@example.com.
After attending this activity, participants will be able to:
- Understand the role of type VII collagen and Anchoring Fibrils in Skin Biology.
- Have an appreciation of the hurdles involved in therapy for Orphan Diseases.
- Have an appreciation of knock-out mouse technology for the design of therapy for genetic skin diseases.
- Understand how autoimmune diseases and genetic diseases can lead to the same common clinical pathway.
- Understand the current therapeutic approaches to genetic skin diseases using recessive dystrophic epidermolysis bullosa (RDEB) as a prototypic example.
Albert Einstein College of Medicine designates this educational activity for a maximum of 1 credit towards the AMA Physician’s Recognition Award. Each physician should claim only those credits that he/she actually spent in the educational activity.