Research

Brittney DeClerck, MD, and Gene Kim, MD, are actively involved in a collaborative research project with the division of bioinformatics in the Department of Population and Public Health Sciences examining the somatic structural variations present in melanoma. The group is using a novel DNA sequencing technique to identify genetic variations and instability in melanoma. The goal of this project is to reliably detect melanoma at its earliest stages.

Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, inherited mechano-bullous disease of the skin characterized by skin fragility, blister formation and chronic wounds. It is caused by defects in the human gene encoding type VII collagen (C7), the major component of anchoring fibrils (AFs) that anchor together the two main layers of the skin, the epidermis and the dermis. Patients with RDEB die of an aggressive metastatic squamous cell carcinoma in the second or third decade of life. There is no treatment available except for supportive care and wound care. In the last year, the laboratories of Mei Chen, PhD, and David Woodley, MD, made significant strides toward characterizing the structure and function of C7 and developed protein replacement therapies via intradermal injection, intravenous injection or topical application of recombinant C7 (rC7) for RDEB. In all three scenarios, the recombinant collagen 7 localized to the basement membrane, accelerating the wound healing process and decreasing scarring.