Rare diseases of ectoderm: Translating discovery to therapy.

Autor: Wright JT; Division of Pediatric and Public Health, Adams School of Dentistry, University of North Carolina, Chapel Hill, North Carolina, USA., Abbott BM; National Foundation for Ectodermal Dysplasias, Fairview Heights, Illinois, USA., Salois MN; Department of Biochemistry and Molecular Biology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA., Gugger JA; Department of Biochemistry and Molecular Biology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA., Parraga SP; Department of Biochemistry and Molecular Biology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA., Swanson AK; Division of Pediatric and Public Health, Adams School of Dentistry, University of North Carolina, Chapel Hill, North Carolina, USA., Fete M; National Foundation for Ectodermal Dysplasias, Fairview Heights, Illinois, USA., Koster MI; Department of Biochemistry and Molecular Biology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Mar; Vol. 191 (3), pp. 902-909. Date of Electronic Publication: 2022 Dec 19.
DOI: 10.1002/ajmg.a.63090
Abstrakt: Heritable conditions known as ectodermal dysplasias are rare and can be associated with marked morbidity, mortality, and a reduced quality of life. The diagnosis and care of individuals affected by one of the many ectodermal dysplasias presents myriad challenges due to their rarity and the diverse phenotypes. These conditions are caused by abnormalities in multiple genes and signaling pathways that are essential for the development and function of ectodermal derivatives. During a 2021 international conference focused on translating discovery to therapy, researchers and clinicians gathered with the goal of advancing the diagnosis and treatment of conditions affecting ectodermal tissues with an emphasis on skin, hair, tooth, and eye phenotypes. Conference participants presented a variety of promising treatment strategies including gene or protein replacement, gene editing, cell therapy, and the identification of druggable targets. Further, barriers that negatively influence the current development of novel therapeutics were identified. These barriers include a lack of accurate prevalence data for rare conditions, absence of an inclusive patient registry with deep phenotyping data, and insufficient animal models and cell lines. Overcoming these barriers will need to be prioritized in order to facilitate the development of novel treatments for genetic disorders of the ectoderm.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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