Recent progress in molecular genetics has identified genes responsible for a wide variety of inherited skin disorders such as, the potentially life-threatening sub-types junctional epidermolysis bullosa (JEB). This new knowledge, however, has not yet been translated into useful therapies. Because proteins defective in JEB are large and contain multiple functional domains, successful treatment with conventional pharmacological approaches is unlikely. In light of this, we have focused our efforts on gene therapy. We have achieved genetic correction of human genetic skin disease tissue in vivo. However, due to loss of transgene expression over time, this correction could not be sustained beyond 4 weeks. Recently, using modified retroviral vectors, we have achieved sustained marker gene expression in human skin tissue in vivo. The goal of this project is to apply this new capability to achieve durable corrective gene delivery of the laminin 5-beta3 (LAM5-beta3) gene in our human JEB tissue/SCID mouse model as a springboard for initiating gene therapy trials in humans.

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Postdoctoral Individual National Research Service Award (F32)
Project #
5F32AR008555-03
Application #
6374821
Study Section
General Medicine A Subcommittee 2 (GMA)
Program Officer
Moshell, Alan N
Project Start
2001-06-11
Project End
Budget Start
2001-06-11
Budget End
2002-06-10
Support Year
3
Fiscal Year
2001
Total Cost
$41,996
Indirect Cost
Name
Stanford University
Department
Dermatology
Type
Schools of Medicine
DUNS #
800771545
City
Stanford
State
CA
Country
United States
Zip Code
94305