在博彩平台网址大全的第一年, Marius Sumandea recalls peers in his network often being surprised he decided to join a company early in its journey working to address cardiovascular disease.

“Then I tell them what attracted me is the possibility of really addressing the underlying causes of disease,马吕斯说。, 谁将于2022年加入该公司，领导心血管研究部门. “我职业生涯的大部分时间都在思考解决心肌问题, but this is the first time I’ve felt like we have the infrastructure and the tools to go after the root causes of some of those problems.”

Marius leads a team of researchers working to leverage the company’s expertise in translating genetic discoveries into potentially transformative medicines to address the root causes of certain forms of heart disease. 自2019年以来, 该公司一直在研究多种治疗方式，包括基因疗法, oligonucleotides and monoclonal antibodies – that could help address the significant unmet needs that still exist for people living with cardiovascular conditions.

“Our cardiovascular program is a great example of how teams at 博彩平台网址大全 are leveraging our deep genetic knowledge to increase understanding of the biology underlying disease,Kevin Eggan说, 首席科学官, 高级副总裁, 研究和早期开发. “We’re excited about the opportunity to develop new and transformative treatment options for people with cardiovascular conditions, 其中许多多年来在护理标准方面没有取得重大进展.”

评估基因治疗方法

治疗某些类型的心脏病, the underlying cause stems from a genetic mutation that leads to deficiencies in specific proteins that play important roles in the function of the heart muscle.

通过基因疗法来解决这些突变, the theory is that the body could begin producing sufficient levels of these proteins to help restore normal heart function and halt – or potentially even reverse – disease progression.

例如, 博彩平台网址大全正在研究治疗肥厚性心肌病(HCM)的方法。, 心脏病一种以心肌增厚为特征的慢性疾病. As the heart thickens, it struggles to fill with enough blood to keep up with the demand of the body. This is often attributed to a genetic mutation that leads to a deficiency in a protein that plays a critical role in the normal contraction of the heart muscle.

Those living with HCM – the leading cause of sudden cardiac death in young adults – can be limited in their ability to exercise and may experience symptoms such as fatigue, 心慌, 胸痛和昏厥.

“不幸的是, HCM患者仍有大量需求未得到满足,凯瑟琳·维泰利说, 他是博彩平台网址大全 HCM项目的首席研究科学家. “Developing a therapy that is designed to target the underlying genetic cause of HCM by delivering a functional copy of the gene to replace the one affected by mutations is the ultimate goal of our ongoing research.”

Arrhythmogenic cardiomyopathy (ACM) is another form of heart disease that could be a potential candidate for a gene therapy approach. ACM是一种遗传性疾病，其特征是, 心脏虚弱和心律失常称为心律失常. It is caused by a genetic mutation that leads to a loss of a protein needed to maintain the desmosome, 一种将心脏细胞连接在一起的拉链状结构. 随着时间的推移，心脏细胞彼此分离并死亡，导致疤痕和脂肪沉积.

Strenuous exercise can lead to early onset of the disease in seemingly healthy adolescents and young adults, 尤其是竞技运动员. ACM患者通常被建议避免运动，治疗选择也非常有限. Some require invasive procedures such as the implantation of a device that shocks the heart during arrythmia.

“The hope of our gene therapy research is to reassemble these desmosome structures to help stitch back together cardiac cells and see if that can strengthen the heart and restore normal heart rhythm,Gouri Yogalingam说, 公司ACM项目的首席科学家. “这可能代表了一种全新的方法来帮助患有ACM的人.”

用单克隆抗体纠正心脏电系统

在其他形式的心脏病中被称为心脏通道病变, genetic mutations may lead to issues with the function of channels that regulate the heart’s electrical current to create a coordinated heartbeat.

Long QT syndrome is a cardiac channelopathy that causes the heart to take longer to electrically recharge itself for the next beat. This can lead to sudden loss of consciousness or cardiac arrest when the heart essentially spins electrically out of control.

这取决于制造离子通道的基因如何突变, 可能导致QT间期延长, 或缩短QT间期(短QT综合征).

“The fact that different mutations in the same gene can lead to either long QT or short QT syndrome indicates that targeting this gene gives us the opportunity see if we can fine-tune and restore the normal channel function,Mustafa Kamani说, 他是公司长QT综合征研究的首席科学家. “在某种程度上，大自然已经为博彩平台网址大全做了概念验证实验.”

Studies have also shown that some people with another type of heart disease naturally produce antibodies that target this same channel, and the QT interval in these individuals is shorter than in those who don’t have the antibodies.

“This provides the rationale for researching and developing a monoclonal antibody to treat long QT syndrome,穆斯塔法说。.

展望未来

博彩平台网址大全 is starting its cardiovascular program by targeting specific sub-types of heart disease. 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.

“We believe that understanding the genetic components of these diseases and taking this precision-medicine approach may allow us to form bridges into other forms of heart disease and help more people,马吕斯说。. “我相信这种方法可以帮助博彩平台网址大全塑造心血管医学的未来.”