Steps Toward a Cure

Eric Jonasch, MD, VHL Alliance Board Member

Advancing our scientific understanding of VHL disease is one of the top priorities for VHL Alliance. To that end, we implement a research grant program that is rapidly attracting some of the top names in the VHL research world.
The goal of the grant program is to fund projects that will:
  1. increase our understanding of how VHL affects the cell;
  2. permit the creation of model systems that better mimic the organ involvement of VHL; and
  3. develop improved screening and treatment approaches for people living with VHL.

These grants come in two sizes: a one-year $25,000 pilot grant and a two-year $100,000 research grant.
Over the past couple of years, VHLA has funded several exciting new projects. Dr. Horst-Shrivers from the University Medical Center in Groningen received a pilot grant award. With the hope of replacing the current blood or urine tests for detecting pheochromocytomas, she is testing whether the hormones released can be reliably measured in saliva. This approach, if successful, will clearly make the lives of individuals living with VHL a lot easier. Dr. Othon Iliopoulos, Associate Professor at the Massachusetts General Hospital in Boston, is using VHL zebrafish to screen for compounds that may alter the effect of VHL mutations. Zebrafish with the VHL gene deleted display a number of VHL lesions similar to those seen in people. Since these tiny fish are relatively transparent, you can actually “see” the effect that potential drugs have on the VHL manifestations. Professor Ian Frew at the University of Zurich is developing a model of kidney cancer in mice, a task that has been quite difficult to achieve. Dr. Frew will be able to use this model to test new drugs that can treat kidney cancer.
In 2016, we have two new awardees: Dr. Raymond Kim from the University of Toronto and Dr. Michael Gorin from the University of California. Dr. Kim will head the VHL-IT Sharing International Consortium (VISIon) with the goal of developing a more efficient approach to collect information on VHL mutations and the way that VHL manifests in these individuals. Dr. Gorin will work on developing two new models to study VHL retinal lesions, one model will use pluripotent stem cells; the other model is a VHL knockout mouse. We anticipate that these talented investigators will help move the field of VHL research forward substantially in the next few years. 

For more information, about the grants, visit
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