After years working in the cancer field, scientist Carmen Priolo, MD, PhD, discovered her true calling: deciphering the cellular metabolic vulnerabilities of tuberous sclerosis complex (TSC) and lymphangioleomyomatosis (LAM). Dr. Priolo says her career path shifted when she met individuals living with these rare diseases and their families. She was deeply struck by the resilience and self-awareness of these patients. “The patients are my inspiration. They are the reason why I went through medical school and a residency in medical oncology. I was passionate about clinical medicine, and then I saw I could help patients in an additional way.” She remembers calling her mother in Italy and saying: “I’ve found my mission.”
At Brigham and Women’s Hospital, Dr. Priolo leads a translational research laboratory. She applies the skills she developed as a medical oncologist in her pursuit of new biomarkers and therapeutic targets for TSC. The key, she believes, is to leverage the turbo-charged metabolism of TSC tumor cells.
“We aim to identify a functional biomarker that may reveal whether tumor cells are dormant, dying, or proliferating, so we could monitor response to rapamycin or to a new treatment at a true cellular level.”
Dr. Priolo co-chaired the 2025 TSC International Research Conference. The TSC Alliance has been transformational in her career. “Coming to the TSC conferences over the years was a huge opportunity to become part of the community. The TSC Alliance has built an exceptional and diverse community. Clinicians and researchers with different backgrounds; patient advocates and families; and the TSC Alliance team, with outstanding initiatives.” One of these is the Biosample Repository, which provided 50 patient samples meticulously linked to clinical data from the Natural History Database (NHD) to her lab for molecular and metabolic analyses. “Without the Alliance’s support, acquiring such well-controlled samples would have been nearly impossible.” The TSC Alliance’s Biosample Seed Grant funded a pilot study that helped her secure a $1 million federal grant to expand her research.
Her greatest wish is to see her work reach the clinic, and for patients with TSC and LAM to benefit from it. “Identifying a biomarker that can improve clinical decision-making or helping advance a drug into a clinical trial – that would be my biggest reward.”
Help the TSC Alliance accelerate TSC research by donating to the 50 Forward Fund!