Rare diseases of ectoderm: Translating discovery to therapy

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.

Automated summary

Heritable conditions known as ectodermal dysplasias are rare and can have significant impacts on morbidity, mortality, and quality of life. Diagnosing and caring for individuals with these conditions is challenging due to their rarity and diverse phenotypes. Researchers and clinicians gathered at a 2021 international conference to advance the diagnosis and treatment of ectodermal conditions, focusing on skin, hair, tooth, and eye phenotypes. Promising treatment strategies discussed included gene or protein replacement, gene editing, cell therapy, and identifying druggable targets. Barriers hindering the development of novel therapeutics were also addressed, such as lack of prevalence data, patient registries, and animal models. Overcoming these barriers is crucial for the development of new treatments for genetic disorders of the ectoderm.