{"title":"[Current research landscape of oral rare diseases].","authors":"Y L Song","doi":"10.3760/cma.j.cn112144-20250607-00211","DOIUrl":null,"url":null,"abstract":"<p><p>Oral rare diseases are a group of disorders characterized by distinct oral and craniofacial manifestations. These conditions are featured by low prevalence, high genetic and clinical heterogeneity, and great challenges in diagnosis and treatment. They can severely impair the development and physiological functions, posing substantial risks to both physical and mental health. In recent years, rapid advancements in genetics, molecular biology, and regenerative medicine have led to notable progress in the research of oral rare diseases. This review summarizes the current research landscape in this field, focusing on causative genes and mechanisms, diagnostic technologies, therapeutic approaches, clinical research, and digital innovations. It also discusses the existing challenges, aiming to promote further research and clinical translation in the field of oral rare diseases.</p>","PeriodicalId":23965,"journal":{"name":"中华口腔医学杂志","volume":"60 9","pages":"943-950"},"PeriodicalIF":0.0000,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华口腔医学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112144-20250607-00211","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Oral rare diseases are a group of disorders characterized by distinct oral and craniofacial manifestations. These conditions are featured by low prevalence, high genetic and clinical heterogeneity, and great challenges in diagnosis and treatment. They can severely impair the development and physiological functions, posing substantial risks to both physical and mental health. In recent years, rapid advancements in genetics, molecular biology, and regenerative medicine have led to notable progress in the research of oral rare diseases. This review summarizes the current research landscape in this field, focusing on causative genes and mechanisms, diagnostic technologies, therapeutic approaches, clinical research, and digital innovations. It also discusses the existing challenges, aiming to promote further research and clinical translation in the field of oral rare diseases.
期刊介绍：
Founded in August 1953, Chinese Journal of Stomatology is a monthly academic journal of stomatology published publicly at home and abroad, sponsored by the Chinese Medical Association and co-sponsored by the Chinese Stomatology Association. It mainly reports the leading scientific research results and clinical diagnosis and treatment experience in the field of oral medicine, as well as the basic theoretical research that has a guiding role in oral clinical practice and is closely combined with oral clinical practice.
Chinese Journal of Over the years, Stomatology has been published in Medline, Scopus database, Toxicology Abstracts Database, Chemical Abstracts Database, American Cancer database, Russian Abstracts database, China Core Journal of Science and Technology, Peking University Core Journal, CSCD and other more than 20 important journals at home and abroad Physical medicine database and retrieval system included.
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