FRRB Project 1740526 - Precision Medicine Applied to Leigh Syndrome at different stages: development of a Neonatal metabolic supplementation and a fetal gene THERapy approach.
|
Name and Surname of PI |
Dario Brunetti |
|
Project Acronym |
PANTHER |
|
Project ID |
1740526 |
|
Host Institution |
Fondazione IRCCS Istituto Neurologico Carlo Besta - Milan |
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Pathology of Interest |
Leigh Syndrome |
|
Research Area |
Rare Diseases |
|
Project Start Date |
16 July 2021 |
|
Project End Date |
15 July 2024 |
|
Funding |
€ 557.800,00 |
|
Type of Project |
Individual |
PROJECT SUMMARY
Surf1 mutations represent the main cause of Leigh syndrome (LS), a rare genetic neurometabolic disease with onset in the first months of life that causes severe neuromuscular disability and patient death in the first three years of life. Surf1 is involved in the proper functioning of mitochondria, the cell's powerhouses. We have recently developed sophisticated preclinical models both in vitro (brain organoids from patient cells) and in vivo (Surf1KO pigs) which have allowed us to understand that SURF1 mutations cause a metabolic impairment of the cell which hinders the correct differentiation of neurons during neurodevelopment. The PANTHER project aims to use these models to develop:
1) a NEONATAL METABOLIC THERAPY, aimed at restoring cellular metabolism during postnatal neurodevelopment.
2) an In Utero Fetal Gene Therapy, aimed at restoring the expression of the Surf1 gene during the prenatal phase.