Marker found as origin of dermal neurofibromas
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:
Introducing Dr. Lu Le
Principal Investigator in the Dermal Neurofibroma Consortium
Dr. Le is a Dermatologist with a scientific and clinical focus in Neurofibromatosis. He received his M.D. and Ph.D. from the Medical Scientist Training Program at UCLA, completed his residency and cancer biology postdoctoral research fellowship at University of Texas Southwestern Medical Center, where he is currently an associate professor. As a principal investigator in this Giorgio Foundation funded project, Dr. Le works with other scientists in his laboratory that includes Dr. Juan Mo, Ph.D (postdoctoral fellow); Dr. Andy Chen, M.D., Ph.D. (postdoctoral fellow); and Tracey Shipman (Senior Research Associate) to understand the biology that give rise to cutaneous neurofibroma as well as to develop novel therapeutic targets for these disfiguring tumors.
A lay person’s description of Giorgio Foundation funded project:
Cutaneous neurofibroma is the most common tumor in Neurofibromatosis Type 1. They usually arise at puberty and beyond, can range widely in size and number, and can cause itching, pain, superficial infections as well as psychosocial and cosmetic burdens. Currently, there is no approved therapeutic option for cutaneous neurofibroma aside from elective surgery. The major barriers that impede progress in this field are the lack of accurate models of these common tumors for drug identification and evaluation of factors that are required for their development. In this Giorgio Foundation collaborative project between different laboratories, Dr. Le and his research team leverage on their clinical and laboratory research expertise in neurofibromatosis to generate novel, physiologically relevant mouse and human derived cutaneous neurofibroma models to study what cause these tumors to develop and for therapeutic testing. The next step for Dr. Le and his team is to utilize these reagents to pinpoint the biological steps that are critical for neurofibroma development so that they can be therapeutically targeted to prevent or delay tumor development.
Introducing Dr. David Gutmann
Leader of the Dermal Neurofibroma Consortium
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.
How is the Dermal Neurofibroma Consortium studying tumors?
observing the tumor microenvironment in mice and petri dishes…
With support from The Giorgio Foundation, scientists have isolated dermal tumors in mice and in petri dishes. They determined that these tumors require peripheral nerves to grow. Understanding the tumor microenvironment and the early stages of tumor growth is the most important first step to recognizing therapies.
Dig into the science in this article in Oncotarget Journal:
Exciting work being done at University of Wisconsin
“…scientists forge a genetic link between people and pigs”
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:
Giorgio Foundation’s Research Consortium Published in “Human Mutation”
“Neurofibromin (NF1) genetic variant structure–function analyses using a full‐length mouse cDNA”
Giorgio Foundation’s Research Consortium Published in British Journal of Cancer
“Cutaneous neurofibromas in the genomics era: current understanding and open questions”
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.
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The Giorgio Children’s Foundation Raises Over $200,000 During “An Evening to End NF1” Annual Fundraiser
Country singer/songwriter Josh Gallagher named as the foundation’s Goodwill Ambassador
The Blair County Convention Center was the setting for this year’s “An Evening to End NF1” fundraiser for The Giorgio Children’s Foundation (www.endnf1.org). The foundation raised $217,020 during the event, every dollar of which will go directly toward NF1 research, specifically for a treatment or cure for dermal neurofibromas (tumors). Also making this a memorable night was the introduction of renowned country singer/songwriter Josh Gallagher as the foundation’s Goodwill Ambassador.
“I couldn’t be more thrilled about the results of our fundraiser,” says Erin Borzellino, “and I’m equally enthusiastic about welcoming Josh Gallagher into our lives as the Goodwill Ambassador for The Giorgio Children’s Foundation. He earned the admiration of millions of viewers on ‘The Voice’ while turning in one fantastic performance after another. I look forward to the great advocacy work Josh will be doing on the foundation’s behalf.”
In June 2016, Gallagher auditioned for “The Voice,” NBC’s massively popular singing competition, joining approximately 43,000 other hopefuls across the nation. He not only made the cut — he eventually made his way into the final four contestants. In the process, he became a fan favorite owing not only to his songwriting abilities, but also his warm and relatable persona. Adam Levine and guest coach Garth Brooks both had high praise for Gallagher’s efforts after he finished in fourth place on the program; his remarkable success on “The Voice” gave him all the encouragement he needed to pursue his dream of a music career.
A native of Pennsylvania, Gallagher now calls Nashville home as he works to build his music career and give back to the fans who supported him on “The Voice.” In the Music City, Gallagher performs regularly at many of the city’s popular venues, including the Country Music Hall of Fame. To date, he has released two acoustic CDs and is now in the process of putting together a debut album.
In addition to a performance by Gallagher, “An Evening to End NF1” also featured the a cappella talents of “Pittch Please,” the University of Pittsburgh’s award-winning ensemble. By every measure, the night was a resounding success. Now, The Giorgio Children’s Foundation’s mission is to continue working to build awareness and fund important research.
About 1 in 3,000 children will be diagnosed with NF1. However, awareness of the condition is surprisingly low, which is why enlisting the support of public figures like Gallagher is so vital. NF1 is the result of a single defective gene that controls tumor growth, resulting in the development of tumors on and throughout the body in affected individuals.
About The Giorgio Children’s Foundation for NF1
The Giorgio Children’s Foundation was established in 2013 to fund research into a cure for NF1, specifically dermal neurofibromas. The foundation’s mission is to enhance understanding of this condition and empower focused research into treatments and cures for NF1.
Giorgio Foundation’s Research Consortium Published in Oncology Times
“Defining The Research Landscape for Dermal Neurofibromas”
The “Dream Team” of NF1 researchers working with The Giorgio Foundation, Dr. David H. Gutmann, Dr. Lu Q. Le, and Dr. Robert A. Kesterson recently published a piece entitled “Defining the Research Landscape for Dermal Neurofibromas” in Oncology Times on Sept 26, 2016.
This piece summarizes some of the specific areas of research the NF1 Dermal Neurofibroma Consortium of these three doctors and their respective labs will be exploring in the coming years. The Giorgio Foundation is proud to be the sole source of funding for this cutting-edge research to find answers for some of the least understood aspects of NF1.
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Giorgio Foundation Announces Formation of NF1 Dermal Neurofibroma Consortium
Foundation will issue over $1.2 million in Medical Research Grants
The Giorgio Foundation is a nonprofit foundation created to fund research for a cure for NF1 – a type of Neurofibromatosis. NF1 affects about 1 in 3,000 and is typically diagnosed in early childhood. NF1 disables the gene that normally controls tumor growth. The result is hundreds or even thousands of painful and disfiguring tumors on the skin, in nerve tissue, and throughout the body.
All NF1 patients fear the more rare life-threatening complications, such as tumors in the brain and spinal cord, or malignancies.
However, more than 80% of NF1 patients will have life-altering complications, the most prevalent being disfiguring skin tumors (dermal neurofibromas).
These tumors have a dramatic impact on employment, social interactions and quality of life.
Many millions of dollars are being dedicated already to researching the dangerous malignant and plexiform tumors, but there has been virtually no research into dermal neurofibromas.
In order to make an impact on quality of life for the largest population of NF1 patients, the Foundation teamed up with doctors at these Universities to form:
The Giorgio Foundation NF1 Dermal Neurofibroma Consortium
David H. Gutmann, MD, PhD Director, Neurofibromatosis Center Vice Chair for Research, Department of Neurology
University of Texas Southwestern Medical Center
Lu Q. Le, MD, PhD Associate Professor
University of Alabama, Birmingham
Robert Kesterson, PhD Professor, Department of Genetics Director, Transgenic & Genetically Engineered Models (TGEMS)
- The research team will use what is already known about dermal neurofibromas to develop in vitro (cell culture) and in vivo (mouse) models with NF1.
- Once dermal neurofibromas have been established in these models, they will be analyzed to determine what factors influence their growth (or in some cases what influences a certain type of NF1 gene mutation to NOT develop dermal neurofibromas).
- The ultimate goal of this analysis is to determine factors that could be relevant to new treatments.
Phase 1: Creation of the in vitro (cell) and in vivo (mouse) models
Phase 2: Analysis:
- What is causing the tumors to grow?
- Why, in some cases, do tumors not develop at all?
Phase 3: Preclinical therapeutic drug studies
Medical Research Grants
The Giorgio Foundation has issued $280,000 in grants to these Universities to initiate medical research. The 4 year plan is a total commitment of $1,280,000.
The NF1 Dermal Neurofibroma Consortium is comprised of an outstanding team of investigators with a strong history of collaborative research and a collective experience with the translation of pre-clinical findings, to clinical practice.
This program represents the first focused dermal neurofibroma initiative which aims to develop one-of-a-kind resources for the NF1 community and facilitate the discovery of promising dermal neurofibroma drug treatments.
It is also anticipated that this initiative will provide critical platforms to evaluate other therapeutic strategies, as well as generate new genetic models useful for studying other important NF1-associated clinical features and life-altering physical conditions.
Giorgio Foundation Awarded Guidestar Bronze
We are pleased to announce that The Giorgio Foundation has received the Bronze Certification, a leading symbol of nonprofit transparency and accountability provided by the GuideStar Exchange, a premier source of nonprofit information.
We have made a concerted effort to be fully transparent about our Mission and how we plant to allocate funds and grants, and we believe the receiving the GuideStar Bronze certification is a promising sign, especially considering The Giorgio Foundation has only been in existence for about a year.
Upon filing our Form 990, we plan to pursue the Gold level of GuideStar certification to act as yet another sign of confidence to our donors that funds are being treated with the utmost level of transparency.
You can see our initial filing at: http://www.guidestar.org/organizations/46-6548416/giorgio-foundation.aspx
About the GuideStar Exchange
The GuideStar Exchange is an initiative designed to connect nonprofits with current and potential supporters. With millions of people coming to GuideStar to learn more about nonprofit organizations, the GuideStar Exchange allows nonprofits to share a wealth of up-to-date information with GuideStar’s many audiences. Becoming a GuideStar Exchange participant is free of charge. To join, organizations need to update their report pages, completing all required fields for participation. The GuideStar Exchange level logos, acknowledged as symbols of transparency in the nonprofit sector, are displayed on all Exchange participants’ nonprofit reports.
Turkey Bowl Benefitting The Giorgio Foundation and We CARE Foundation
Plans are set for the 32nd Annual Turkey Bowl, a community football game fundraiser. This year the Turkey Bowl will benefit the We CARE Foundation and The Giorgio Children’s Foundation for NF1. Both Foundations work to help children.
The Turkey Bowl will be held Wednesday November 25, 2015 at 7pm at Mansion Park in Altoona, Pa. The event is being organized by community volunteers who support the We CARE Foundation and The Giorgio Children’s Foundation for NF1. Two teams will face off in the Turkey Bowl, the Giorgio Children’s Foundation Bucks and the We CARE Foundation Ducks. A prize will be provided for the top individual fundraiser.
Stephen C. Gildea, CEO at Tyrone Regional Health Network said it will be a great day for kids, in that two great organizations, focused on doing everything they can to help special needs kids, are pulling together to raise money for pediatric therapy and research into NF-1. “I think it’s a statement of the community-based focus of New Pig and Tyrone Hospital, the two local organizations that support the Giorgio Children’s Foundation and the We CARE Foundation, and how these organizations that still maintain their strong local roots are working together in a collaborative way to make this event happen.”
“The Giorgio Foundation is pleased to work with the We CARE Foundation on a fundraising event that will benefit both organizations. The Turkey Bowl has been a tradition in Blair County for over 30 years – it’s great that this game will continue, and that two local non-profit organizations can work together. We are blessed with tremendous local business and community support, and hope that support will continue with this event,” said Stephen Kline, Treasurer, The Giorgio Children’s Foundation.
Businesses, groups or individuals interested in supporting the Turkey Bowl as event sponsors can contact Kristy Replogle at (814) 201-2399 for details on sponsor opportunities.
Individuals who are interested in playing in the Turkey Bowl with either the
The Giorgio Children’s Foundation for NF-1 Bucks or the We CARE Foundation Ducks may call Timmy C at (814) 329- 6726 for details.
Community members are invited to attend the game. Admission is free to the public.
Funds raised via the Turkey Bowl will be allocated equally to the We CARE Foundation and The Giorgio Children’s Foundation for NF-1.
The We CARE Foundation supports We CARE Therapy Services. We CARE Therapy Services provides therapy for special needs children. Services offered are through the cooperative efforts of Tyrone Regional Health Network and ProCare PT, LP. Services offered at We CARE include physical therapy, occupational therapy, speech and language therapy, feeding and swallowing therapy, sensory integration therapy and special instruction. For more information about We CARE Therapy Services or the We CARE Foundation, please call (814) 201-2399.
The Giorgio Children’s Foundation for NF-1 seeks to help children by finding a cure through clinical research, and to advance the light of knowledge into Neurofibromatosis (NF-1). NF-1 disables the gene that normally controls tumor growth in our bodies. The result is hundreds or even thousands of painful and disfiguring tumors on the skin, in nerve tissue and throughout the body. Complications include disfigurement, damages nerves, bone deformities and even blindness. Early symptoms may be noticed in childhood or it may lie dormant during childhood. For more information call
(814) 686-2256 or visit www.endnf1.org
The Giorgio Foundation’s First Event: The Roast of Timmy C
We are proud to announce the first benefit event for The Giorgio Foundation:The Roast of Timmy C
This event will be taking place the evening of Saturday, October 18 at The Altoona UVA Club, a classic venue fitting the evening.
We are preparing for nearly 400 from our area to attend this event to toast — and roast — one of our region’s leaders in charity, Timmy Cassidy. It’s going to be a great evening for all involved, and all proceeds and sales will directly benefit NF1 research and The Giorgio Foundation.
We’ve included some information for the event, and we’d love to have you!
The Giorgio Foundation receives 501(c)3 non-profit status
After some period of waiting, we are proud to announce that as of May 13, 2014, The Giorgio Foundation has received 501(c)3 tax-exempt status from the Internal Revenue service!
Needless to say, this is a significant and necessary step forward for the Foundation and being able to secure donations to fuel clinical research of neurofibromatosis. We hope you will consider giving to this worthy cause, and know that 100% of your donation will go directly to the research of NF1.
We’ve included some information for the event, and we’d love to have you!