Ehlers-Danlos Society
The Ehlers-Danlos Society, Rarer Types Grant: "Dissecting the significance and impact of missense PLOD1 mutations causing kyphoscoliotic Ehlers-Danlos syndrome" – Project code Rarer Types of EDS – $200K Grant 2022
Description
The project dissects the molecular consequences of missense PLOD1 mutations that cause kyphoscoliotic Ehlers-Danlos syndrome, linking variant-specific effects on enzyme structure and function to disease mechanisms.
Role of our laboratory
Molecular, structural and functional analysis of missense LH1/PLOD1 variants associated with kyphoscoliotic Ehlers-Danlos syndrome.
Project details
- Full title: Dissecting the significance and impact of missense PLOD1 mutations causing kyphoscoliotic Ehlers-Danlos syndrome
- Funding agency: The Ehlers-Danlos Society
- Programme: Rarer Types Grant
- Project code: Rarer Types of EDS – $200K Grant 2022
- Total project funding: EUR 120’000.00 (funding to the laboratory: EUR 90’000.00)
- Project period: 1 December 2022 – 30 June 2026 (with granted extension)
- Institutions involved: University of Pavia (Italy, Coordinator), University of Ghent (Belgium)
Principal Investigator / Project Coordinator
Federico Forneris
Permanent Staff – Armenise-Harvard Laboratory
