Thomas Jefferson University

Sergio A Jimenez

Linda D Siracusa

Human fibroblast cells that comprise a gene construct that comprises a duplication mutated fibrillin 1 gene operably linked to functional regulatory elements and compositions comprising such cells are disclosed. Methods of treating wounds and kits for practicing such methods are disclosed. Transgenic animals comprising a duplication mutated fibrillin 1 gene operably linked to a tissue specific and/or inducible promoter are disclosed. Methods of identifying individuals with a duplication mutated fibrillin 1 gene are disclosed. The methods comprises detecting a duplication of exons 17-40 of a fibrillin 1 gene or a gene product produced by expression of a duplication mutated fibrillin 1 gene. Methods of preventing expression of a duplication mutated fibrillin 1 gene are disclosed.

Growing community of inventors

Philadelphia, PA, United States of America

Sergio A Jimenez