UNE researcher to study rare disease thanks to grant from national Tuberous Sclerosis Association
A University of New Engl和 researcher recently received a seed grant from the national Tuberous Sclerosis Association to exp和 research on tuberous sclerosis complex (TSC), a genetic disease characterized by the development of tumors across multiple organs.
这笔资金将使哈里·菲利帕基斯(Harry Filippakis)博士.D.，副教授 the UNE College of Medicine (一个COM) Department of Biomedical 科学s, who specializes in cellular metabolism 和 disease signaling pathways, 寻找新的TSC生物标志物, with the long-term goal of developing sustainable therapeutic options for patients with this rare condition.
这些肿瘤, 在大脑等地方发育的, 肺, 和肾脏, can cause secondary complications such as epilepsy 和 breathing difficulties. While TSC affects only one in 6,000 people born in the U.S., its impact on patients is significant due to the lack of a current cure for the disease, Filippakis说.
The research will focus on the metabolism of cells responsible for TSC, with a specific emphasis on tryptophan metabolism. By looking at the metabolic l和scape of TSC patients, the study aims to identify what keeps the TSC cells alive, 让他们成长, 以及他们需要什么才能茁壮成长.
“通过了解细胞生长的原因, 研究人员可能, 反过来, be able to deprive the disease of essential nutrients 和 create a better 和 long-lasting treatment for TSC,Filippakis说, noting that current options only stop tumors from getting worse without eliminating the problematic cells causing the disease.
Although generally less aggressive than other cancers, TSC shares a common molecular pathway called the mTOR pathway, 在不同类型的癌症中哪一个被破坏了. Filippakis hopes that studying TSC can offer insights applicable to a broader range of cancers, potentially leading to improved treatment options 和, 最终, 不仅仅是治疗TSC的方法.
“我们希望通过在TSC中做出发现, we can also use that knowledge to apply it for other more aggressive types of cancer as well,Filippakis说.
The seed grant also aims to foster collaboration 和 accelerate research in TSC by committing to open-sourcing data.
“Any data we generate as researchers become publicly available after a year,Filippakis说.
Following the acquisition of samples from the TS Alliance Biosample repository, Filippakis 和 his team will conduct metabolomic analysis, followed by confirming 和 further analyzing the data in the lab.
Sarah Lafleur (D ..O.她是一名学生医生 一个COM, has been assisting in Filippakis’ lab since her first year as a medical student. 有了这个种子基金, Filippakis 和 Lafleur will be examining tryptophan metabolism in detail 和 identifying active metabolites in the patient samples that are distinct from normal values.
“We are looking at how these cells change based on what kind of conditions we treat them with,拉福勒解释道, adding that she has always wanted to do medical research 和 be a physician but was not sure how to balance following both interests.
“This research opportunity has shown me that I can follow my interest in research, 药物开发, 临床试验，同时也是一名医生, 哪一个真的很好,”她说。.
The Filippakis research team maintains close partnerships with individuals affected by TSC 和 their loved ones. During the international conference organized by the Tuberous Sclerosis Alliance, Filippakis 和 Lafleur had the opportunity to engage directly with those impacted by this condition, to further underst和 和 address the challenges of living with TSC.
“The patients need to be front 和 center,” Filippakis stated. “研究 has traditionally centered around mechanisms 和 underst和ing processes in a lab, while underst和ing mechanisms remains crucial, 这是同样的, 如果不是更多的话, important to consider how our discoveries can enhance the daily lives of patients.”
Filippakis is one of four initial faculty project leaders in the newly established 细胞信号研究中心, UNE’s second Center of Biomedical 研究 Excellence, he will continue working on identifying therapies for TSC as a part of the center.
“UNE has provided the ideal platform for applying for this seed grant,Filippakis说, noting the support he received from his department, 大学, 正规澳门赌场网络研究和奖学金办公室. “Being part of the UNE research community that dedicates tremendous efforts to improving global health has been both motivating 和 humbling.”