Neuronal ceroid lipofuscinosis (NCL) is an umbrella term referring to the most frequent childhood-onset neurodegenerative diseases, which are also the main cause of childhood dementia. Although the molecular mechanisms underlying the NCLs remain elusive, evidence is increasingly pointing to shared disease pathways and common clinical features across the disease forms. The characterization of pathological mechanisms, disease modifiers, and biomarkers might facilitate the development of treatment strategies.

The DEM-AGING project aims to define molecular signatures in NCL and expedite biomarker discovery with a view to identifying novel targets for monitoring disease status and progression and accelerating clinical trial readiness in this field. In this study, we fused multiomic assessments in established NCL models with similar data on the more common late-onset neurodegenerative conditions in order to test the hypothesis of shared molecular fingerprints critical to the underlying pathological mechanisms. Our aim, ultimately, is to combine data analysis, cell models, and omic strategies in an effort to trace new routes to therapies that might readily be applied in the most common forms of dementia.

神经元蜡样脂褐质沉积症（NCL）是一个总称，是指最常见的儿童期发病的神经退行性疾病，也是儿童痴呆的主要原因。尽管 NCL 背后的分子机制仍然难以捉摸，但越来越多的证据表明各种疾病形式具有共同的疾病途径和共同的临床特征。病理机制、疾病修饰因子和生物标志物的表征可能有助于治疗策略的制定。

DEM-AGING 项目旨在定义 NCL 中的分子特征并加快生物标志物的发现，以期确定用于监测疾病状态和进展的新靶标，并加速该领域的临床试验准备。在这项研究中，我们将已建立的 NCL 模型中的多组学评估与更常见的迟发性神经退行性疾病的类似数据融合起来，以测试对潜在病理机制至关重要的共享分子指纹的假设。我们的最终目标是将数据分析、细胞模型和组学策略结合起来，努力追踪可能容易应用于最常见形式的痴呆症的新疗法。