2011 Endocrine Society Meeting & Expo

By Susan Milliken

On June 4, 2011, I attended the 93rd Annual Meeting and Expo of the Endocrine Society in Boston, MA. I set up a small display at a table where the Pheo Paratroopers were kind enough to share their display table.

While our display went mostly unnoticed (after all, VHL is so rare!), there were a few medical professionals who came over to talk to me about patients they had with VHL or pheochromocytomas.

I heard several speakers on pheochromocytomas and kidney cancer as well as a very interesting talk on hunting down genetic mutations and the problems doctors and researchers encounter in trying to define the gene that causes a genetic disease.

In summary, the speaker acknowledged that there are many biological processes yet unidentified. These gaps in our knowledge contribute to the failure of treatments in the clinic. While we are focusing on the one gene we feel is the culprit, there might be another gene hiding in the shadows that is also influencing the process. Also, we don’t always know the role of modifier genes in genetics. Why does one person with VHL get many tumors while others don’t? Why do some get pheos and others are more prone to tumors in the brain and spinal cord? The reason people may develop fewer tumors could be differences in some additional “protective” genes.

That’s when a researcher asked the question about protective genes. He wondered by we concentrate so much on the disease gene, but we don’t concentrate on the genes that could strengthen our defenses and protect us. I found this very interesting. Instead of finding a drug to get rid of the tumors after they form, perhaps we can find something that will prevent us from getting tumors at all!

As printed in the VHL Family Forum 19:3, September 2011. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.