Introducing Dr. David Gutmann Leader of the Dermal Neurofibroma Consortium

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David H. Gutmann, MD, PhD received his undergraduate, graduate (PhD) and medical (MD) degrees from the University of Michigan, where he trained in immunogenetics in the laboratory of Dr. John Niederhuber. During his residency in Neurology at the University of Pennsylvania, he worked with Dr. Kenneth Fischbeck who sparked his interest in neurogenetics. He then returned to the University of Michigan for research fellowship training in Human Genetics with Dr. Francis Collins. During this time, he identified the neurofibromatosis type 1 (NF1) protein and began to elucidate its function as a RAS regulator. In late 1993, he was recruited to Washington University, becoming a full professor in 2001 and the Donald O. Schnuck Family Professor in 2002. He established the St. Louis Children’s Hospital Neurofibromatosis Clinical Program in 1994 and the Washington University Neurofibromatosis Center in 2004.

Dr. Gutmann serves as the Program Director for the Giorgio Foundation NF1 Dermal Neurofibroma Consortium, and works closely with Drs. Kesterson and Le to employ a combination of human induced pluripotent stem cells, genetically engineered mouse strains, and molecular approaches to understand why dermal neurofibromas form and grow.

In addition, his laboratory is focused on understanding the genomic, molecular and cellular basis for nervous system problems affecting children and adults with NF1 using both human biospecimens and novel genetically-engineered mouse strains. Over the past 25 years, his team has developed numerous mouse models of NF1-associated optic glioma, somatic growth defects, attention deficit, autism, plexiform neurofibroma, and spatial learning impairments as well as NF2-associated meningioma. They have used these preclinical models to define the cellular origins of tumors, the contribution of the tumor microenvironment, and the major growth control pathways that dictate brain development in NF.

Dr. Gutmann has published over 430 peer-reviewed manuscripts, and has been internationally recognized for his achievements with numerous awards, including the 2012 Children’s Tumor Foundation Frederich von Recklinghausen Lifetime Achievement Award, the 2013 Washington University Distinguished Faculty Research Award, the 2014 Riley Church Lectureship and the 2017 Alexander von Humboldt Award.  He also serves as a member of the National Institute of Neurological Disorders and Stroke Advisory Council. Dr. Gutmann is an elected fellow of the American Academy of Neurology and the American Neurological Association.

Great success at An Evening to End NF1 $228,000 raised

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Performances by Josh Gallagher and The Clarks drew a large crowd of Giorgio Foundation supporters to An Evening to End NF1 on November 3, 2018 at the Blair County Convention Center.

Attendees participated in basket and silent auctions with items such as signed sports memorabilia, concert tickets, Penguins tickets and more.

The informational section of the evening addressed how Neurofibromatosis affects patients very differently.  A video of an NF1 patient afflicted with dermal tumors showed the reason why The Giorgio Foundation focuses solely on research in this area.

The evening raised $228,000 – every dollar going dedicated to medical research.

The Giorgio Foundation is grateful to every one of our supporters for making this the best event yet.

Dr Lu Le published in “Cancer Discovery”

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A major development in progress towards slowing or stopping the development of dermal neurofibromas has been discovered by Dr. Lu Le and his team at University of Texas Southwestern.   This research is being done as part of The Giorgio Foundations’s Dermal Neurofibroma Consortium.

Currently, the only treatment for neurofibromas is surgical removal of the most uncomfortable and most disfiguring of the skin tumors. It would be impossible to remove them all.

“For the first time we have a mouse model that develops different types of neurofibromas inside the body and on the skin, just like in humans. Because of this model, we now know the exact origin of these two types of tumors. If you know where the tumor begins, and you know the end result, then you can follow the steps in the occurrence of the tumor and figure out how to interrupt the development of the tumors,” said Dr. Le, who treats NF1 patients as well as does research on the condition.

The researchers found that the protein Hox-B7 is a marker for the cell of origin for NF1 tumors. “It’s like a GPS system in a car. By making the Hox-B7 cells light up, we can follow the development of the tumor. It’s like branding,” said Dr. Le, the senior author of the study and a member of the Harold C. Simmons Comprehensive Cancer Center.

Another key discovery is that a parallel pathway, the Hippo pathway, can modify growth and development of these tumors. This is particularly important because treatments are being developed to block the Hippo pathway. “If you can control the Hippo pathway, you should be able to slow the development of neurofibromas, specifically in NF1 patients who also have genetic changes in their Hippo pathway,” Dr. Le said.

Read more in this article:

Or the full research article here:

Giorgio Foundation’s Research Consortium Published in British Journal of Cancer

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The research of Dr. Lu Q. Le, as part of the Giorgio Foundation’s Dermal Neurofibroma Consortium has been included in an article in the British Journal of Cancer on April 26, 2018.

The article summarizes work that is being done to identify various gene mutations that cause dermal neurofibromas and how this research can be applied to cancer research.  The Giorgio Foundation is on the frontier of this exciting new phase of research.

Exciting work being done at University of Wisconsin “…scientists forge a genetic link between people and pigs”

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One of the challenges of NF1 is not knowing how you or or child will be impacted.  There are so many different mutations of the gene and so many different outcomes.  This news out of University of Wisconsin – Madison is very exciting.  The associate director of the Biotechnology Center (and father of a son with NF1) is collaborating with other experts in the field to genetically modify pigs to have various mutations of the NF1 gene.

“Pigs develop faster than children do so they offer the possibility of helping predict how NF1 might affect a particular child, enabling parents, doctors, teachers and others to prepare. Earlier intervention for a child who develops autism could lead to better outcomes. Doctors could start working to find drugs to treat tumors before they grow too large.”

Read the entire fascinating article here: