Elaine V. Fuchs, PhD, a former Damon Runyon Fellow and current Board Member, was recently named president of the International Society for Stem Cell Research. She sat down last week with The New York Times for a fascinating Q & A about her research and career. Below are a few excerpts:
Q. Over the years, what has been the discovery you are most proud of?
A. We pioneered an unconventional approach to solving the genetic basis of human disease. In the past when geneticists were researching an inherited disease — cystic fibrosis, breast cancer —they would systematically study large families where it occurred and then search the DNA to find the defective gene. Eventually, they’d identify the culprit, let’s say BRCA1. But this didn’t tell them how encoded mutant proteins contributed to a person getting breast cancer.
In the early 1990s, in my lab, we took a reverse direction by studying what the proteins did and then figuring out what diseases they caused when defective. Our first breakthrough came while we were studying a rare inherited blistering skin disorder. Because it is rare, there were no large families to study. You couldn’t use the conventional methods to identify it.
What we did was to begin by studying keratins, the major proteins of the skin. When we engineered mice to express mutant keratins, we discovered that their skin blistered. Moreover, we were able to show how the mutation caused the blistering. So the next step was to compare the skin pathology of the mice to all the known blistering skin diseases in humans. We teamed with dermatologists to study skin samples from patients. This led us to the genetic basis of this inherited blistering disorder in humans. Since, our method has become a paradigm for guiding scientists to the genetic basis of other human diseases.
> Read the whole post: Board Member Elaine Fuchs Featured in New York Times Q & A
Posted by Todd on 07/07 at 05:01 PM
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