Parisi Ludovica, Knapp Patrick O, Girousi Eleftheria, Rihs Silvia, La Scala Giorgio C, Schnyder Isabelle, Stähli Alexandra, Sculean Anton, Bosshardt Dieter D, Katsaros Christos, Degen Martin
Laboratory for Oral Molecular Biology, Dental Research Center, Department of Orthodontics and Dentofacial Orthopedics, University of Bern, Bern, Switzerland.
Division of Pediatric Surgery, Department of Pediatrics, University Hospital of Geneva, Geneva, Switzerland.
Front Cell Dev Biol. 2021 Jun 10;9:682944. doi: 10.3389/fcell.2021.682944. eCollection 2021.
The prevalence of congenital anomalies in newborns is estimated to be as high as 6%, many of which involving the cranio-/orofacial region. Such malformations, including several syndromes, are usually identified prenatally, at birth, or rarely later in life. The lack of clinically relevant human cell models of these often very rare conditions, the societal pressure to avoid the use of animal models and the fact that the biological mechanisms between rodents and human are not necessarily identical, makes studying cranio-/orofacial anomalies challenging. To overcome these limitations, we are developing a living cell repository of healthy and diseased cells derived from the cranio-/orofacial region. Ultimately, we aim to make patient-derived cells, which retain the molecular and genetic characteristics of the original anomaly or disease , available for the scientific community. We report our efforts in establishing a human living cell bank derived from the cranio-/orofacial region of otherwise discarded tissue samples, detail our strategy, processes and quality checks. Such specific cell models have a great potential for discovery and translational research and might lead to a better understanding and management of craniofacial anomalies for the benefit of all affected individuals.
据估计,新生儿先天性异常的患病率高达6%,其中许多涉及颅面/口腔颌面部区域。这类畸形,包括几种综合征,通常在产前、出生时或很少在出生后被发现。由于缺乏这些往往非常罕见疾病的临床相关人类细胞模型、避免使用动物模型的社会压力以及啮齿动物和人类之间的生物学机制不一定相同这一事实,使得颅面/口腔颌面部异常的研究具有挑战性。为了克服这些限制,我们正在建立一个来自颅面/口腔颌面部区域的健康和患病细胞的活细胞库。最终,我们的目标是为科学界提供源自患者的细胞,这些细胞保留了原始异常或疾病的分子和遗传特征。我们报告了我们在建立一个源自废弃组织样本颅面/口腔颌面部区域的人类活细胞库方面所做的努力,详细介绍了我们的策略、流程和质量检查。这种特定的细胞模型在发现和转化研究方面具有巨大潜力,可能会有助于更好地理解和管理颅面畸形,造福所有受影响的个体。