FRRB Project 1751723 - Genetic modifiers of hereditary and acquired ATTR amyloidosis

Name and Surname of PI

Andrea Cortese

Project Acronym


Project ID


Host Institution

Fondazione Istituto Neurologico Casimiro Mondino - Pavia

Pathology of Interest

ATTR amyloidosis

Research Area

Rare Diseases

Project Start Date

1 June 2021

Project End Date

31 May 2024


€ 555.000,00

Type of Project



ATTR amyloidosis is a degenerative disease caused by accumulation of the blood-circulating protein transthyretin (TTR) in different tissues and organs, especially peripheral nerves and heart, leading to progressive motor impairment and shortness of breath. Two different forms are known: hereditary ATTR amyloidosis due to mutation in TTR gene, and acquired. Despite the recent advances in diagnosis and treatment, the underlying factors influencing disease onset and severity are still largely unknown. The objective of this genome-wide association study or GWAS is the identification of genetic modifiers, namely DNA variants in affected subjects, responsible for earlier onset and more aggressive disease course. The aim of the project is to deepen the knowledge of this condition, to identify novel druggable targets and, eventually, to improve the clinical management of patients with ATTR amyloidosis.