During his first year at 博彩平台网址大全, 苏曼迪亚(Marius Sumandea)回忆说，他的朋友们经常惊讶于他决定加入一家致力于解决心血管疾病的公司.

“然后我告诉他们，吸引我的是真正解决疾病根本原因的可能性,” says Marius, who joined the company to lead its cardiovascular research unit in 2022. “I’ve spent most of my career thinking about solving problems of the heart muscle, 但这是我第一次觉得博彩平台网址大全有基础设施和工具来解决其中一些问题的根本原因.”

马吕斯领导着一个研究团队，致力于利用公司的专业知识，将基因发现转化为潜在的变革性药物，以解决某些心脏病的根本原因. Since 2019, the company has been studying multiple treatment modalities – including gene therapy, 寡核苷酸和单克隆抗体——可以帮助解决心血管疾病患者仍然存在的重大未满足需求.

“博彩平台网址大全的心血管项目是博彩平台网址大全团队如何利用博彩平台网址大全深厚的遗传知识来增加对生物学基础疾病的理解的一个很好的例子,” says Kevin Eggan, chief scientific officer, senior vice president, Research and Early Development. “博彩平台网址大全很高兴有机会为心血管疾病患者开发新的变革性治疗方案, many of which have not seen significant advances to the standard of care in years.”

Evaluating Gene Therapy Approaches

For certain forms of heart disease, 潜在的原因源于一种基因突变，导致在心肌功能中起重要作用的特定蛋白质缺乏.

By addressing these mutations with gene therapy, 该理论认为，人体可以开始产生足够水平的这些蛋白质，以帮助恢复正常的心脏功能，并阻止甚至可能逆转疾病的进展.

For example, 博彩平台网址大全 is studying ways to address hypertrophic cardiomyopathy (HCM), a chronic disease characterized by the thickening of the heart muscle. 随着心脏变厚，它很难充满足够的血液来满足身体的需求. 这通常归因于基因突变导致蛋白质缺乏，而这种蛋白质在心肌的正常收缩中起着至关重要的作用.

HCM是年轻人心脏性猝死的主要原因，患有HCM的人运动能力有限，可能会出现疲劳等症状, palpitations, chest pain and fainting.

“Unfortunately, there are still significant unmet needs for people living with HCM,” says Catherine Vitelli, the lead research scientist for 博彩平台网址大全’s HCM program. “开发一种治疗方法，通过传递基因的功能拷贝来取代受突变影响的基因，从而针对HCM的潜在遗传原因，这是博彩平台网址大全正在进行的研究的最终目标.”

心律失常性心肌病(ACM)是另一种心脏病，可能是基因治疗方法的潜在候选者. ACM is an inherited condition characterized by an enlarged, weak heart and abnormal heart rhythms called arrythmias. 它是由一种基因突变引起的，这种突变导致维持桥粒所需的蛋白质缺失, a zipper-like structure that binds cardiac cells together. Over time, cardiac cells detach from one another and die, leading to scarring and fat deposits.

剧烈运动可导致看似健康的青少年和年轻人早期发病, particularly competitive athletes. People with ACM are often advised to avoid exercise and have very limited therapeutic options. 有些需要侵入性手术，比如在心律失常时植入电击心脏的装置.

“博彩平台网址大全基因治疗研究的希望是重组这些桥粒结构，帮助将心脏细胞缝合在一起，看看这是否能增强心脏功能，恢复正常的心律。,” says Gouri Yogalingam, the principal scientist for the company’s ACM program. “This could represent an entirely new approach for helping people with ACM.”

Using a Monoclonal Antibody to Correct the Heart’s Electrical System

In other forms of heart disease known as cardiac channelopathies, 基因突变可能导致调节心脏电流以产生协调心跳的通道功能出现问题.

长QT综合征是一种心脏通道病变，导致心脏需要更长的时间来为下一次跳动充电. 这可能会导致突然失去意识或心脏骤停，这时心脏基本上会失去控制.

Depending on how the gene that makes the ion channel mutates, it can either lead to a longer QT interval, or shorter QT interval (short QT syndrome).

“同一基因的不同突变可能导致长QT综合征或短QT综合征，这一事实表明，针对这一基因，博彩平台网址大全有机会看到博彩平台网址大全是否可以微调并恢复正常的通道功能。,” says Mustafa Kamani, the lead scientist for the company’s long QT syndrome research. “In a way, nature has done the proof-of-concept experiment for us.”

研究还表明，一些患有另一种心脏病的人自然会产生针对同一通道的抗体, and the QT interval in these individuals is shorter than in those who don’t have the antibodies.

“这为研究和开发治疗长QT综合征的单克隆抗体提供了理论依据,” says Mustafa.

Looking to the Future

博彩平台网址大全正在启动针对特定亚型心脏病的心血管项目. 但马里乌斯指出，该公司正在积累的经验可能具有更广泛的潜力.

“博彩平台网址大全相信，了解这些疾病的遗传成分，并采用这种精准医学方法，可能会让博彩平台网址大全与其他形式的心脏病建立联系，帮助更多的人。,” says Marius. “I believe this approach could help us shape the future of cardiovascular medicine.”