Literature DB >> 34836651

In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development.

Lauren Rylaarsdam1, Taruna Reddy2, Alicia Guemez-Gamboa3.   

Abstract

Rare diseases affect nearly 400 million people worldwide and have a devastating impact on patients and families. Although these diseases are collectively common, they are often overlooked by the research community. We present the ongoing work of the PACS1 Syndrome Research Foundation as a paradigm for approaching rare disease research.
Copyright © 2021 Elsevier Ltd. All rights reserved.

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Year:  2021        PMID: 34836651     DOI: 10.1016/j.tig.2021.10.010

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  1 in total

Review 1.  Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.

Authors:  María Arnedo; Ángela Ascaso; Ana Latorre-Pellicer; Cristina Lucia-Campos; Marta Gil-Salvador; Ariadna Ayerza-Casas; María Jesús Pablo; Paulino Gómez-Puertas; Feliciano J Ramos; Gloria Bueno-Lozano; Juan Pié; Beatriz Puisac
Journal:  Int J Mol Sci       Date:  2022-08-25       Impact factor: 6.208

  1 in total

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