Thanks to you, the VHL Family Alliance Fund for Cancer Research has helped to move forward the pace of VHL research. Individuals and families affected by VHL, our friends and relations, and members of the health care and research communities, have joined forces to emphasize the importance of research on VHL -- not only for those of us diagnosed with the condition called VHL, but for everyone who may ever have a tumor.

As we approach our fifth anniversary, several things are clear.

The power of being together and sharing information is awesome in itself. As one example, we helped doctors identify hearing issues which may be associated with VHL. In the one hundred years that VHL has been in the medical literature, no one had ever before realized that VHL can cause hearing loss. In less than one year of this alliance, our hotline volunteers raised this as an issue. Studies in the U.S., France, and Germany, are now finding that as many as one-third of people with VHL may experience some hearing problems, and are leading to some constructive interventions that can save hearing.

The focus of energy moves progress forward. The proposal to crystallize and map the protein, which VHLFA funded jointly with the Murray Foundation in 1995-96, was not yet at a point where major funding could be sought. It needed seed money to get it off the ground. By providing that seed money, we were able to get it moving. The completion of the project will still require major funding, but initial crystals were made by Dr. Diana Griffith at the Massachusetts General Hospital using protein supplied by Dr. Berton Zbar at the U.S. National Institutes of Health (NIH). Technical issues were uncovered in the process of refining the protein itself, but there are now three centers working on refining the protein, and the race for the crystal has been joined by researchers at Sloan-Kettering Hospital. We are hopeful that in another year a map of the protein will indeed be available for the possible design of custom drugs to compensate for the lack of VHL protein in the system.

The Good Lord left us some clues. When there are major health issues that affect the general population, we can often find clues among the rare diseases. In the study of VHL there are clues to how kidney cancer, hemangioblastoma, and other vascular tumors arise in the general population. This realization is encouraging research on VHL in the U.S., England, France, Germany, and Japan.

Our goal is medical management. As Dr. Gnarra said to the Louisiana meeting in early November, "Our goal is to change VHL from a condition with surgical management to a condition with medical management." Instead of taking out tumors, with all the risks and discomforts of surgery, it would be nice if there were a pill for this, or a special diet. It’s not such a wild dream. There are now three new drugs in early clinical trials which may provide some help for VHL. The challenge for us will be to get the pharmaceuticals or an independent research study to determine whether these drugs are indeed beneficial for people with VHL. Typically the drug companies learn from the clues in the rare diseases, take advantage of that knowledge to develop a drug with a larger market in the general population, and leave the people with the rare disease without a proven therapy. These "orphan drugs" need sponsorship to finish the studies that determine whether the drug is effective, and in what dosage, for people with the rare condition.

VHL is not so rare. Twenty years ago we were told there were only nine affected families in the world. Ten years ago they said there were only ten affected families in the United States. Wrong! We are now in touch with more than 7500 affected people in 37 countries. VHL has been extremely under-diagnosed because it crosses so many medical specialties. Moreover, now that more and more people are being diagnosed with VHL using DNA testing, we are finding that as many as 50% of the people with the change in the VHL gene may never experience significant symptoms. And we are now finding people early enough that with good medical management they should be able to stay well throughout their lifetimes.

Understanding what VHL does. The projects which we are currently funding are focused on determining exactly what the VHL protein does in the body, and what goes wrong when it is not present. Just as in fixing anything around the house, you can’t fix it until you understand what’s gone wrong. If there’s a water spot on the ceiling, and you simply re-paint the ceiling, you’ll wind up with another spot -- you have to determine the source of the leak and fix the leak. Similarly, we have to understand the chain of events that leads from the shutting off of a supply of VHL protein in a single cell to the formation of a tumor. What happens? Once we know what happens, then we can find a place along that pathway to intervene and change the outcome.

We need your help. The exciting part is just beginning!

We need to keep sharing our experiences
We need VHL tumor tissue donated when it is surgically removed
We need funding for new and innovative research projects

We can’t do it alone. We need all our friends and relations to join with us in gathering research funding so that we can award one or more research grants again this year to deserving projects that will move us closer to our goals.

Thank you for your generosity. Every little bit helps!

Joyce Graff and Peggy Marshall, Co-Chairs, VHL Family Alliance

As published in the 1997 Research Report

Research Report

Table of Contents:

Letter from the Chairpersons

A partnership with Families

1997 Research Grant Awards

Rare disease offers major insights into what makes tumors tick

Reaching more people, Funding Research

Remember VHLFA in your will

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From the Co-Chairpersons