Catherine Lee

Catherine LeeDepartment

Genetics, Cell Biology, and Development (GCD)


Molecular, Cellular, Developmental Biology and Genetics (MCDB&G), Biomedical Informatics and Computational Biology (BICB). (Kuang Lab)


Jakub Tolar, MD, PhD
Rui Kuang, PhD

Project description

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a debilitating skin disorder caused by functional mutations in the COL7A1 gene coding for type VII collagen (C7), the major component of anchoring fibrils that attach the dermis to the epidermis. Lack of C7 results in extreme skin fragility and blistering wounds covering large areas of the body. Median survival is 30 years as patients are at high risk for malnutrition and anemia, deadly infections, and aggressive squamous cell carcinoma. Preclinical and clinical trials from the Tolar lab have shown that hematopoietic stem cell transplantation (HCT) of wild-type hematopoietic stem cells (HSC) can partially alleviate symptoms of RDEB by increasing C7 at the dermal-epidermal junction. The deposited C7 forms functional anchoring fibrils that subsequently restore skin integrity and facilitate the repair of skin lesions. However, the cell type responsible and the molecular mechanism by which hematopoietic cells or their progeny increase C7 at the dermal-epidermal junction remains unknown.

My thesis research aims to improve upon the current use of HCT to treat RDEB as well as to elucidate the mechanism by which HCT offers a therapeutic benefit for RDEB patients. Distinguishing between the cell types that are simply present and those that are responsible for secreting functional C7 is crucial to identifying the cell type that provides therapy in transplanted RDEB patients. To do this, I am using single-cell RNA-seq to (1) determine differences in gene expression between fibroblasts from RDEB patients and matched siblings and (2) determine the cell types present in RDEB skin before and after HCT. The results from my thesis work will advance the long-term goal of our lab in improving the use of HCT to treat RDEB and expand our understanding of how we can use stem cells to treat genetic disorders.


Nevala-Plagemann C, Lee C, Tolar J. Umbilical cord blood based therapies for the treatment of epidermolysis bullosa. Cytotherapy. 2015 Jun; 17(6): 786-795.

Lee C, Kikyo N. Strategies to identify long noncoding RNAs involved in gene regulation. Cell & Bioscience. 2012 Nov 6; 2(1):37.