THE PROJECTS MAKING A DIFFERENCE
What we’re working on
CURRENT PROJECT
Gene Therapy
In 2021 The Giorgio Foundation invested in a proof of concept conducted by Dr Agnihotri at University of Pittsburgh, which would add the missing NF1 protein back into the gene using transplicing. His research team proved that this is possible and more work is underway.
CURRENT PROJECT
Dermal
In this synergistic multi-investigator project, we proposed three interdependent lines of investigation, including (1) characterizing the differential impact of NF1 gene mutations on dermal neurofibroma development and growth, (2) defining the cellular and molecular determinants important for dermal neurofibroma development and growth, and (3) personalized medicine approaches that best identify effective treatments for dermal neurofibromas.
FUNDS RAISED TO DATE
$3.2 Million
PROJECT SUCCESS
The Dermal Neurofibroma Consortium developed the first ever dermal neurofibroma model from stem cells allowing study of the tumor in petri dishes and on mice. They then created the first ever mouse models with NF1, with both the gene mutation that results in tumors and the mutation that results in no tumors. Dr Lu Le created a new method for removing tumors from patients that is faster and less expensive than the technology that existed in the past. On the gene front, Dr Agnihotri proved that the deformed NF1 gene can be made whole using transplicing.
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