Stem Cell Research and VHL

A great deal of interest in the scientific literature and in the printed media has focused on "stem cells" and their potential therapeutic application for the replacement of diseased or damaged tissue. It is not too far in the future where effective treatments and cures for such diseases as Parkinson’s, ALS and Diabetes may be able to utilize stem cell replacement therapies to correct the disorders. VHL is another primary candidate for benefit — perhaps not so much a total systemic cure, but certainly help in battling and reducing the need for repeated surgeries.

Stem cells are defined in scientific circles as multipotential, self-renewing cells capable of giving rise to multiple specialized tissue types. In plain language, this means a set of undifferentiated cells that have not yet "specialized" to become any particular tissue or organ. Such cells can continue to divide until division gives rise to one daughter cell that can form a specialized cell (kidney, liver, spleen, blood or brain) and a second cell that is a copy of itself. In this way this process can go on indefinitely. It is obvious that one potential use of stem cell technology is to create an unlimited supply of healthy replacement organs for transplantation. In the case of VHL, it means eliminating finding donors for kidney transplants, long waits and countless disappointments before such transplants can be performed. Moreover, it is not a pipe dream or wishful thinking to say that within the next five years,¹ if funding continues, that science will understand the mechanisms by which stem cells choose one lineage or organ type over another and be able to manipulate stem cells to generate whatever tissue type is required. Furthermore, with advances in gene therapy it is not far in the future (perhaps only 5-10 years) when we will be able to harvest stem cells from an afflicted individual, use gene therapy to correct the defective gene and differentiate those stem cells into any organ required for transplant. This would eliminate the need for immunosuppressson therapy to block rejection since the donor would be the recipient him or herself. Better than that, the VHL mutation could be repaired in the new kidney, so it would not be at risk for VHL tumors. A new kidney, without the VHL mutation, with no risk of rejection!

Unfortunately, stem cells have also become synonymous with embryonic stem cells, which are derived from the inner cell mast of miscarried or aborted human embryos. But this is not the only source of stem cells. Embryonic stem cells retain a greater ability to form almost all specialized cells in the body, but stem cells may also be found in the umbilical cords of healthy babies, or even in adult tissues like hair or skin. There are legitimate ethical issues to be dealt with, but imagine being able to grow a replacement kidney from a single strand of your hair! Imagine repairing spinal cord damage to free someone from chronic pain or help them walk again!

There are legitimate concerns about the potential misuse of stem cell research. One is the fear that scientists may clone people, or that people might fertilize human eggs only to "farm" fetuses and harvest stem cells. There are already laws that forbid such reprehensible acts. Nearly every powerful new technology can not only be used for powerful good, it also has the potential for misuse. Should we give up all the potential benefits because of fears of the dark side? Or should we instead learn to control the power and harness the benefits? Just as there are careful controls on the ethical treatment of laboratory animals, and bans on the sale of organs for transplantation, so too there must be careful ethical controls on the sources and use of stem cells.

While enthusiasm for the potential medical benefits of stem cell therapies is high, and justifiably so, the development of such technology still requires a greater understanding of the basic biological properties of stem cells. There is a great deal of expensive research to be done to achieve the goals, which is why governmental funding is so very important. In my opinion, the pros far outweigh the cons, and the potential benefits for people with VHL are enormous.

Stem cell therapy (now still experimental) can help in diabetes, stroke, cancer, spinal cord injury, and burn repair.  It can help regenerate or repair kidney, pancreas, nerve, adrenal, and retinal tissue.  The development of stem cell research is a major scientific breakthrough -- US National Institute of Diabetes, Digestive Disorders, and Kidney

1. While scientists will likely understand these mechanisms in another five years and be able to perform these procedures in the laboratory, FDA approval for mainstream treatments would likely take at least five years beyond that.

As printed in the VHL Family Forum  9:3, September 2001.  For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.