Banking Tissue Spurs Research

In this issue we introduce our new initiative in Tissue Banking. With your help, we will encourage more researchers to study VHL, accelerate drug development, and exert more control over the process. The success of this effort depends on You!

More than ten years ago we formed a relationship with the University of Maryland to bank surgically removed tissue from people with VHL in order to assist researchers in finding tissue. More than 75 people with VHL have generously donated tissue to this collection.

Our goal in creating a bank was to encourage more researchers to undertake the study of VHL.

The availability of tissue often determines which disease a researcher will study. For example, if one wanted to study VHL aspects in the pancreas, it would be necessary to identify at least 20-30 people with VHL in the pancreas, wait for them to need surgery, and collect the tissue in one place. It might take years to identify enough people for a meaningful study.

"If a disease is rare, individual centers may not see enough patients to collect a critical mass of samples, and smaller drug companies often don’t have the resources to find patients. Patient groups have also found that study results often are not shared with other researchers, and legal fights have broken out over who owns the righs to potential therapies developed from tissues.” (Marcus, see Note 1.)

For these and other reasons, patient groups like ours are beginning to create tissue banks of their own.

The Bank at the University of Maryland has been helpful, but has not been as successful as we had hoped. We reviewed the results and interviewed researchers to determine what was lacking. For the study of von Hippel-Lindau disease, researchers have told us they need more than just tumor tissue. They need blood, urine, DNA, and tumor tissue as well.

We have spent nearly three years evaluating options, and studying the evolution of tissue banking. The National Cancer Institute has recently announced new guidelines for the consistent storage and cataloguing of tissue so that samples from multiple institutions can be used together in a meaningful way. We were determined that our bank should follow these guidelines.

We are pleased to announce that we have chosen a new partner in Tissue Banking. We have joined the Rare Disease Initiative of the National Disease Research Interchange (NDRI) and the Office of Rare Diseases (ORD) of the U.S. National Institutes of Health. With NDRI as our tissue banking partner, we will be able to store the blood, urine, DNA, and tumor tissue required by today’s research and drug development.

Rare diseases provide a particularly helpful view into cancer research.

"Scientists hope that by studying the DNA of patients in families where members across several generations get a particular cancer, they can home in on the genetic variations that make these families susceptible.

"This is critical because it turns out that the same genes are often involved when people in the general population get cancer. So the genes yield new insights into how cancer works, and for developing drugs. In just the past six months, for instance, the Food and Drug Administration approved two new kidney-cancer drugs that were developed in part using genetic information from cancer-prone families.” (Marcus) These drugs, Sutent (Pfizer) and Nexavar (Bayer and Onyz), are not yet the “magic bullets” that we are all hoping for, but they are significant advances in cancer treatment, and people with VHL have helped to develop and test them.

Amy Dockser Marcus, in several articles in the Wall Street Journal, provides examples of families prone to colon cancer, prostate cancer, and kidney cancer. The study of kidney cancer has been advanced through the study of von Hippel-Lindau disease.

In order to further the study of familial diseases, patients are often asked to enroll in registries. For the more common diseases (lung, colon, and breast cancer) there are registries at a large number of hospitals and centers. For the rare disease, however, except for some large centers, there are no large collections of tissue ready for study.

"It remains challenging to find families to participate in such research. Some people simply don’t want to come forward. Others are willing to participate, but the people affected by the disease have died and their DNA isn’t available for study. Researchers hope that through patient advocacy groups, media reports and word of mouth, they can reach more people.”

"One reason families with inherited cancers are so valuable to research is that they make it much easier to home in on the problematic genes. To find culprit genes in a vast population of patients with varying genetic makeups can be almost impossible. When the people getting the disease are all related, it is often easier for researchers to detect relevant genetic patterns.

"In families, there are more needles and less haystack to search for the cause of the cancer,” says Sanford Markowitz, an investigator at the Howard Hughes Medical Institute and professor at the Ireland Cancer Center and the Case Western Reserve University School of Medicine in Cleveland, who heads the familial-colon-cancer study.” (Marcus)

In kidney cancer, research into families led to the discovery of the so-called von Hippel-Lindau gene, which in turn was useful in the development of the new drugs, Sutent and Nexavar, for advanced kidney cancer. People born with one faulty copy of the gene have what is known as von Hippel-Lindau disease, which puts them at much higher risk for tumors, including kidney cancer.

W. Marston Linehan, chief of urologic surgery at the National Cancer Institute, whose group helped find the VHL gene, said that inherited kidney cancer is very rare, comprising only 4% to 5% of cases. But the same VHL gene is also involved in the majority of kidney cancers in the general population.

Alice Coday, 51, says her father, who had von Hippel-Lindau disease, died at the age of 53 from complications of it. Ms. Coday and her two siblings have the disease. All three of them are being followed as part of a family study at the National Institutes of Health.

Ms. Coday has had five surgeries related to the disease, including two to remove tumors in her kidneys. “Most people wonder if they’ll get cancer,” said Ms. Coday. “VHL families wonder when. But because of the research on families, the gene was identified. That’s always the first step leading to treatments.”

References: Many thanks to Amy Dockser Marcus and the Wall Street Journal for two insightful articles on this subject, dated May 23, 2006, and July 11, 2006.
amy.marcus@wsj.com

What is NDRI?

The National Disease Research Interchange (NDRI) is a non-profit organization whose primary purpose is to obtain, preserve, and distribute human cells, tissue, and organs to researchers and scientists. They are directly affiliated with the National Institutes of Health, who strongly supports the NDRI’s Rare Disease Initiative, a project that provides scientists with the materials they need to understand and treat rare diseases.

The VHL Family Alliance is proud to be working with NDRI toward not only a cure for VHL, but also for renal (kidney) and other cancers.To sign up for tissue donation, contact the Rare Disease Coordinator at +1 800 222 6374. Forms and reference information can be found at vhl.org/bank Donors who live outside the United States may still register and contribute tissue. Please check first with your VHLFA country chairperson to see what tissue banks exist within your own country. A list of Tissue Banks can be found at vhl.org/bank, and the list of country chairs can be found at vhl.org/support. If you prefer to donate to the VHL Tissue Bank at NDRI, please discuss with the Coordinator any regulations that may apply to your location.

As printed in the VHL Family Forum 14:2, August/September 2006. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.