Studying an orphan disease by a biophysical approach: The case of cblC

Vilasi, S. and Longo, L. and Randazzo, L. and Bollati, M. (2024) Studying an orphan disease by a biophysical approach: The case of cblC. Il nuovo cimento C, 47 (5). pp. 1-4. ISSN 1826-9885

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Abstract

A rare disease, as defined by the European Union, is one that affects fewer than 5 persons per 10000, predominantly children. These conditions often lack effective treatments and are considered orphan diseases. Despite their rarity, there are numerous rare diseases, sharing origin and common underlying molecular mechanisms. Focusing on the metabolic rare disease cblC, we demonstrate how an approach based on biophysical methods, can pave the way for exploring novel treatment avenues for such conditions.

Item Type: Article
Subjects: 500 Scienze naturali e Matematica > 530 Fisica
Depositing User: Marina Spanti
Date Deposited: 23 Jan 2025 14:24
Last Modified: 23 Jan 2025 14:24
URI: http://eprints.bice.rm.cnr.it/id/eprint/23334

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