Joaquim Diego Santos, a student from Geisinger School of Medicine’s class of 2028, has been awarded the Alpha Omega Alpha (AOA) Carolyn L. Kuckein Research Fellowship. This prestigious fellowship is part of approximately 50 awards given annually by AOA to support the development of future medical researchers.
Santos’s proposal, titled “Validation and Integrated Analysis of a New Mitochondrial Myopathy Patient-Reported Outcome Measure,” aims to assess whether this new measure can provide more meaningful results compared to generic quality-of-life scales in evaluating mitochondrial myopathy in clinical trials. Mitochondrial myopathy is a condition affecting muscles due to insufficient energy production by mitochondria caused by genetic mutations.
Before attending medical school, Santos worked at the Children’s Hospital of Philadelphia within its mitochondrial medicine frontier program. His commitment to this field extends beyond research as he plans to run the Chicago Marathon with the United Mitochondrial Disease Foundation’s “Team Activate” in October 2025.
The fellowship will enable Santos to continue his research on mitochondrial disease, which remains underfunded due to its rarity. “People with mitochondrial disease have decreased motor function and exercise intolerance. My research focuses on creating patient outcome measures for upcoming clinical trials,” he stated.
His project intends to develop a quality-of-life survey specific to mitochondrial disease that addresses issues such as dexterity, muscle fatigue, and vision clarity. “I’ve been working on this project for the last 2 years,” Santos said. “The award means so much because it feels like both a culmination of my previous work and the beginning of my research career as a future clinician.”
Currently in his second year at Geisinger, Santos chose the institution for its emphasis on community immersion and serving underserved populations. He expressed his desire to remain in-state and contribute back to communities with limited resources: “I really want my work to be about providing greater access to medical care.”
Santos is contemplating between specializing in anesthesia or pediatrics: “For anesthesia, I love being hands-on while providing medical care…My interest in pediatrics is closely tied to my research on mitochondrial disease.”
AOA highlights that these fellowships are highly competitive — only one candidate from each school can be nominated — aiming to support various types of research including clinical investigation and basic laboratory studies.
Geisinger College of Health Sciences focuses on educating healthcare leaders through innovation and purpose-driven learning experiences across its academic programs.
