Print | Close


Dr. Elizabeth A. Thiele

Elizabeth A. Thiele, MD, PhD

Dr. Elizabeth Thiele: When I think about tuberous sclerosis complex, I like to look at the people I care for who are in their forties and fifties, and I think about how the world has changed during their lives. When those individuals were diagnosed, there were no CT scans; there were no MRI scans. We didn't know anything about the genetic cause of TSC. In the 1990s we identified the TSC1 and TSC2 gene. So, first making genetic diagnosis possible. That's less than fifteen years. So and then, also learning in the past couple of years about the science. We knew nothing about what happened with these proteins inside the cell. Now in the past three years, we've learned enough to already have drugs in trial. So, when I think about the people who are diagnosed forty years ago, and when I think about the children or adults being diagnosed today, I think the world is a better place for an individual with TSC. And I think at the rate we're learning, and the rate new tools we have, and tests we have and treatment we have, I would like to think that, for an individual being diagnosed today with TSC, particularly a young child, the world will be very different than the lives my forty and fifty year old folks have lived.