Research: Q & A

June 2005

When basic research led LSI scientist Kun-Liang Guan to the Tuberous Sclerosis Complex (TSC) Alliance conference, he came face to face with patients suffering from the disease. Guan, a MacArthur fellow, studies how cell growth and cell size are regulated by growth factors, nutrients, and cellular energy levels. He researches the TSC1 and TSC2 tumor suppressor genes, where mutations are responsible for the inherited genetic disease TSC. Guan's research directly affected TSC sufferers who were grateful that the drugs he helped bring to clinical trial were making such a difference in their lives.

TSC is characterized by lesions of the skin and central nervous system, tumor growth and seizures.

How did you become involved with patients who have TSC?

Three years ago I attended a scientific conference organized by the Tuberous Sclerosis Alliance. At the time I was studying how TSC1/TSC2 regulates mTOR. The meeting had a scientific program and included the family members and people afflicted with TSC disease.

Is this the first time you encountered actual people with a disease you were researching in the lab?

It was the first time I met people afflicted with the disease. It is a pretty rare disease, and there were moving stories, one lady has a two-year old son with TSC. She really appreciated the work we and others are doing, which provided a potential treatment for the TSC disease.

How did your research lead to Rapamycin's use as a TSC drug?

Rapamycin is a drug targeting the mTOR pathway that controls cell growth, which the FDA approved to treat other diseases. The clinical trial to use Rapamycin to treat TSC-related disease had started about two years earlier based on the scientific finding from our lab and others, We discovered the TSC disease gene connected to the drug target in 2002.

What are the next steps for the treatment?

Many more clinical trials are being conducted (at least two) for TSC and also for cancer treatment.

Have you met with other patients?

The LAM Foundation organized another meeting a year or so ago. LAM (Lymphangioleiomyomatosis) is a disease in women of childbearing age who also carry the genetic mutation in TSC. It's a lung disease wherein the smooth muscle in the lung overgrows and overcomes the epithelial cells. Epithelial cells contain the oxygen exchange process in the lung. This terrible disease often leads to death. I always get a different prospective when I talk to people who have the disease. One lady in particular said that she is on a clinical trial with Rapamycin - and that she feels great.

Is it a common practice for scientists who are doing basic research to meet patients?

No, it's not very common.

What was your reaction to meeting with TSC and LAM patients?

I felt like wow! Something we are doing is relevant and is really important. Normally we do our work with an interest in the research. It's curiosity, and scientifically it has significance. However it's so far removed from the clinical reality. When I meet patients, I understand that what we're doing maybe important to them personally. We can contribute something good to the society. It made me feel that our work has direct relevance . It certainly provided me with a very different perspective.