In Case You Were Wondering

In case you were wondering,
even after the flurry of serving close to 200 people at our breakfast,

we're still making pancakes,

and eating them too!

And we're still looking for a cure for our sweet boy.

In case you were wondering
how that cure will be found, the following information, taken from the Alliance website, describes the protocols that are supported by our fundraising efforts!

The Cancer Research Fund of the VHL Family Alliance was able to fund 3 proposals of the 13 very high quality proposals that were submitted this year. The research that will be performed by these groups will address important clinical, translational, and basic research questions that are very relevant to our understanding of VHL and how VHL patients will be treated in the future.

Thera P. Links, M.D., Ph.D., of the University of Groningen in the Netherlands, is pursuing a project of “Visualizing VEGF producing lesions in Von Hippel-Lindau.”

The first thing that happens in the development of a VHL lesion is that the second copy of the VHL gene is inactivated in a cell. Without the VHL protein, there is heightened production of vascular endothelial growth factor (VEGF). The greater the production of VEGF, the higher the growth rate of the tumor.

Until recently, it was not possible to measure the VEGF levels inside the tumor without removing the tumor. Dr. Links and colleagues have developed a radioactive labeled antibody, based on bevacizumab (Avastin) which binds to VEGF, making it possible to visualize and quantify VEGF in tumors of colorectal and melanoma patients using a PET scan.

This project will use PET scans on 30 people with VHL to detect and quantify the level of VEGF production in VHL-associated lesions. The goal is to use this information to formulate a plan of monitoring and treatment with surgery and/or drug therapy to manage the health of these patients.

Rupal Bhatt, M.D., Ph.D., of Beth Israel Deaconess Hospital and the Dana Farber/Harvard Cancer Center in Boston, will study the “Role of the Interferon Gamma Pathway in Resistance to Antiangiogenic Therapy.”

People with VHL are sometimes being offered treatment with one of a class of drugs known as tyrosine kinase inhibitors (TKI’s). Eventually the tumors become resistant to treatment, and begin to grow again. Even though the drug is blocking the VEGF pathwaythe tumor seems to find a “detour” and begin to grow again. Bhatt’s team believe they have identified the “detour” being used. The project will confirm this hypothesis in mice, test it in VHL patients, and try to find a way to block this path so that these and newer TKI’s can be used effectively for longer periods of time.

James Handa, M.D., of the Wilmer Eye Institute of Johns Hopkins Medical Institute in Baltimore, will study the “Use of a novel genetic animal model to study the molecular pathogenesis of retinal hemangioblastomas in VHL disease.”

Retinal hemangioblastomas are the most common manifestation of VHL, occurring in the vast majority of VHL patients, often as the first sign of the disease.

It is essential to identify lesions early and control them. However, there are only limited treatment options available, which are not always successful. Better treatment options are needed. Dr. Handa and his colleagues have recently developed an animal model that reproduces the retinal hemangioblastomas observed in patients with VHL disease. This novel genetic model represents the first animal model for VHL retinal hemangioblastomas. In this research proposal they will use this animal model to identify new methods for the early diagnosis and treatment of VHL-associated retinal hemangioblastomas.