Contribution of alternative splicing to neurofibromagenesis

Project Description

Neurofibromatosis type I is a rare genetic neurocutaneous disease predisposing patients to develop benign tumors with a penetrance of 99%. It is caused by a loss of function of the NF1 gene. Although benign, these tumors arising from Schwann cells can be disfiguring, impair movement, and be painful/itchy. There is an urgent need to address this unmet clinical need. Our preliminary results indicate that alternative splicing, a powerful mechanism that expands proteome diversity by allowing transcription of multiple messenger RNAs from a single gene, is altered in the neurofibroma microenvironment. Additionally, NF1-/- tumor cell culture supernatant modulates the cell splicing profile of the microenvironment. Altogether, it suggests a new paracrine regulatory program potentially revealing new therapeutic targets to be characterized in vitro and in vivo

Funding offered

Yes

depending on the level

The last update was on 4 November 2024. The University reserves the right to modify its projects without notice.