Giorgio Foundation Announces Formation of NF1 Dermal Neurofibroma Consortium

By September 23, 2015Uncategorized

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

Washington University

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)

Project

  • 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.

Project Phases

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.

Summary

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.

Thank you to our wonderful supporters! We raised $217,405 for research!!