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A University of New England researcher recently received a seed grant from the national Tuberous Sclerosis Association to expand research on tuberous sclerosis complex (TSC), a genetic disease characterized by the development of tumors across multiple organs.

 The funding will enable Harry Filippakis, Ph.D., an assistant professor in the ɫ����Ƶ College of Medicine (ɫ����Ƶ COM) Department of Biomedical Sciences, who specializes in cellular metabolism and disease signaling pathways, to identify new biomarkers for TSC, with the long-term goal of developing sustainable therapeutic options for patients with this rare condition. 

These tumors, which develop in places like the brain, lungs, and kidneys, can cause secondary complications such as epilepsy and 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, according to Filippakis.

The research will focus on the metabolism of cells responsible for TSC, with a specific emphasis on tryptophan metabolism. By looking at the metabolic landscape of TSC patients, the study aims to identify what keeps the TSC cells alive, makes them grow, and what they need to thrive. 

“By understanding what makes the cells grow, researchers may, in turn, be able to deprive the disease of essential nutrients and create a better and long-lasting treatment for TSC,” Filippakis said, 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, which is disrupted in various cancer types. Filippakis hopes that studying TSC can offer insights applicable to a broader range of cancers, potentially leading to improved treatment options and, ultimately, a cure for more than just TSC. 

“We hope that by making discoveries in TSC, we can also use that knowledge to apply it for other more aggressive types of cancer as well,” Filippakis remarked.

The seed grant also aims to foster collaboration and accelerate research in TSC by committing to open-sourcing data.

“Any data we generate as researchers become publicly available after a year,” Filippakis said.

Following the acquisition of samples from the TS Alliance Biosample repository, Filippakis and his team will conduct metabolomic analysis, followed by confirming and further analyzing the data in the lab. 

Sarah Lafleur (D.O., ’26), a student doctor in ɫ����Ƶ COM, has been assisting in Filippakis’ lab since her first year as a medical student. With this seed grant, Filippakis and Lafleur will be examining tryptophan metabolism in detail and 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,” Lafleur explained, adding that she has always wanted to do medical research and 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, drug development, and clinical trials and also be a physician, which has been really nice,” she said. 

The Filippakis research team maintains close partnerships with individuals affected by TSC and their loved ones. During the international conference organized by the Tuberous Sclerosis Alliance, Filippakis and Lafleur had the opportunity to engage directly with those impacted by this condition, and to further understand and address the challenges of living with TSC. 

“The patients need to be front and center,” Filippakis stated. “Research has traditionally centered around mechanisms and understanding processes in a lab, and while understanding mechanisms remains crucial, it's equally, if not more, 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 Center for Cell Signaling Research, ɫ����Ƶ’s second Center of Biomedical Research Excellence, and he will continue working on identifying therapies for TSC as a part of the center.

“ɫ����Ƶ has provided the ideal platform for applying for this seed grant,” Filippakis said, noting the support he received from his department, college, and the ɫ����Ƶ Office of Research and Scholarship. “Being part of the ɫ����Ƶ research community that dedicates tremendous efforts to improving global health has been both motivating and humbling.”