The Passano Foundation, Inc.

2011 Passano Laureate

Elaine Fuchs, Ph.D.
Rebecca C. Lancefield Professor
Investigator
Howard Hughes Medical Institute
Laboratory of Mammalian Cell Biology and Development
The Rockefeller University

Elaine Fuchs is a world leader in skin biology and its human genetic disorders, which include skin cancers and life-threatening genetic syndromes such as blistering skin disorders. She is widely credited for bringing dermatology into the molecular biology era. Fuchs has made landmark contributions to skin biology and its disorders, including genetic syndromes, stem cells and cancers. Fuchs focuses on mechanisms underlying development and differentiation of skin from stem cells, and she has systematically and brilliantly applied novel approaches in basic science to solve genetic bases of human dermatological disorders. In pioneering research, she cloned/characterized skin’s major proteins, keratins, elucidated their expression patterns and how they form a cytoskeletal network that imparts mechanical resistance to our skin’s surface, identified key residues involved, isolated the genes, mutated them, put them into mice, and correctly diagnosed and used the pathology to identify and subsequently validate the corresponding human blistering disorders.

Trained as a biochemist and cell biologist, Fuchs pioneered the use of “reverse genetics,” an unconventional and now textbook approach to start with understanding how proteins function and then work up to the human diseases they cause when defective. Fuchs’ early studies on keratins, the major structural proteins of the skin, led her to elucidate the functions and genetic basis of the first intermediate filament disorder, a blistering skin disease. This work set the paradigm for what is now a group of nearly 20 related but distinct human disorders that affect not only skin, but also muscle, the nervous system, liver and other tissues and organs of the body.