Elaine Fuchs, PhD

Rebecca C. Lancefield Professor
Head of the Laboratory of Mammalian Cell Biology and Development
Howard Hughes Medical Institute Investigator
The Rockefeller University

Elaine Fuchs, PhD, is acclaimed for her fundamental research on skin biology and its genetic disorders, including skin cancers and a variety of other diseases. She is based at the Rockefeller University, where she is Rebecca C. Lancefield Professor, head of the Laboratory of Mammalian Cell Biology and Development, and a Howard Hughes Medical Institute investigator. “Her innovative reverse genetic approach and landmark discoveries in our understanding of the underlying bases for inherited human disorders and cancers place her in the top cadre of the most creative scientists worldwide,” stated her nominator for the 2004 Dickson Prize.

For Fuchs, skin is a model system because skin epithelium is one of the few tissues that can be maintained and propagated in culture in a variety of species, including humans and mice, and because skin is readily accessible through common techniques (circumcision, biopsies, etc.). Also, because immortalization of skin cells is not required for culture, the study of normal versus diseased cells can facilitate the discovery of a genetic-disease link.

From a biopsy, Fuchs can re-create a disorder in vitro and then use a transgenic mouse model to further investigate the disorder. She has found many mouse manifestations of dermatological diseases to be similar to those found in humans, thus allowing researchers to characterize rare diseases that may not occur spontaneously to the extent that allows for in-depth investigation. For example, epidermolysis bullosa simplex (EBS), a skin blistering disorder studied by Fuchs, results from a defect in keratin, a protein that normally strengthens skin cells. In EBS, a breakdown of keratin filaments causes epidermal cells to become fragile and results in blisters.

Investigators normally select a disease of interest, identify the gene that is responsible for it, and then attempt to understand how the defective protein causes the clinical disorder in patients who have the disease. However, in the reverse genetics approach used by Fuchs, investigators select a skin protein that might be interesting; fully characterize the protein; and then generate mutations in the protein's gene to test whether, when defective, the protein might cause a disease. To determine which skin disease might be produced, they create the gene mutation in a mouse and diagnose the mouse as a physician would diagnose a patient. They then work with dermatologists to find patient volunteers with the corresponding skin disease. By matching the disease characteristics across species, Fuchs and her team have elucidated the genetic basis of a number of skin diseases, including certain types of cancers. This approach requires less time and effort in the laboratory and can be used for rare disorders not amenable to classical methods of human genetics. In addition, by the time the disease is identified using reverse genetics, the underlying molecular and biochemical processes have been characterized, which can expedite development of a treatment for the disorder.

Fuchs received her BA in chemistry from the University of Illinois and her PhD in biochemistry from Princeton University. She did postdoctoral work at the Massachusetts Institute of Technology and then began a 22-year research career at the University of Chicago before moving to the Rockefeller University in 2002.

She is a member of the National Academy of Sciences, the American Academy of Arts and Sciences, the Institute of Medicine, and the American Academy of Microbiology. She is also a member of the Council of the National Academy of Sciences and an associate editor of The Journal of Cell Biology. Her other honors include the 2001 Cartwright Award from Columbia University, the 2001 Richard Lounsbery Award from the National Academy of Sciences, an honorary doctor of science degree in 2003 from Mount Sinai School of Medicine, and election as a fellow in the New York Academy of Sciences.