玛丽娜·费拉里尼 医学博士（意大利米兰圣拉斐尔科学研究所）
洛伦佐·达尼亚医学博士（意大利米兰圣拉斐尔科学研究学院）
玛丽娜·费拉里尼 医学博士（意大利米兰圣拉斐尔科学研究所）
洛伦佐·达尼亚医学博士（意大利米兰圣拉斐尔科学研究学院）
获奖年份： 2015
金额： 50,000 美元
玛丽娜·费拉里尼（Marina Ferrarini）医学博士和洛伦佐·达尼亚（Lorenzo Dagna）医学博士因其项目“埃尔德海姆-切斯特病的个性化治疗”获得了$50,000资助。 费拉里尼和达尼亚的研究致力于阐明埃尔德海姆-切斯特病（ECD）患者体内的恶性细胞如何积聚并与邻近的正常细胞相互作用，从而助长疾病发展，导致病变和肿瘤形成。基于这一认识，有望发现能够阻断这些过程、阻止疾病进展的治疗策略。.
最终报告
Our study focuses on a better understanding of the pathogenic events operating inside ECD lesions, as well as the mechanisms exerted by selected drugs/new molecules on mutated histiocytes. This is expected to result in the discovery of novel strategies providing ECD patients with treatments that are more effective and with fewer side effects than those currently available. So far, we have identified molecules and pathways that may have a key role in disease progression; we plan to investigate how these molecules act to fuel the disease and also test the efficacy of potentially available inhibitors. In order to validate these findings and improve treatment for ECD patients, we are also taking advantage of state-of-the-art bioreactor technology. The bioreactor, originally developed by NASA spatial research, works under conditions of simulated microgravity, allowing the tissue to remain viable during culture and offering the unprecedented possibility to test and compare the effectiveness of treatments. We were able to apply this technology, which we have already exploited for other diseases, also to ECD tissues. We have collected information on the mechanisms exerted by available drugs, particularly kinase inhibitors, on ECD lesions, unveiling new putative therapeutic targets, in particular metabolic pathways, that can be further exploited to design new combination therapies. Finally, we have identified Chromogranin A, a pro-hormone associated with inflammation and heart failure, as a possible marker of cardiac disease also in ECD. This molecule can be detected in plasma samples and can be potentially used as a novel non-invasive procedure to monitor cardiovascular involvement and response to treatment in ECD patients.