Know The Glow’s Megan Webber had the pleasure of meeting Dean Santiago Schnell, the head of the University of Notre Dame’s College of Science. His journey from Venezuela to Oxford, then Michigan, and now his expanding role at Notre Dame fascinated Megan. Notably recognized for his interim directorship at the Boler-Parseghian Center for Rare and Neglected Diseases, where he focuses on patient advocacy, Dean Schnell has recently been invited to join the Indiana Governor’s Rare Disease Advisory Council (RDAC).
This new responsibility involves incorporating his family’s challenging experience with rare diseases into his work. The Council, consisting of 12 members, will primarily concentrate on Pediatric Cancers in its inaugural year, acknowledging their nature as rare diseases. Dean Schnell’s role includes collaborating on a survey for parents and stakeholders to better comprehend the incidence, diagnosis, treatment, and challenges associated with rare diseases in the US.
Before delving into Dean Schnell’s future endeavors, Megan was interested in exploring his past and learning about how he arrived at this unique position. She was especially interested in understanding how he balances his global health and science perspective with his life’s work in microanalysis, pinpointing the onset of diseases.
Rare diseases have a deeply personal connection for Dean Schnell due to his family’s experience with Haddad Syndrome, resulting in the loss of many children in his extended family. Haddad Syndrome is identified by issues such as a lack of eye control, heart problems, and gastrointestinal issues in newborns. Dean Schnell’s nephew, a survivor until the age of ten, inspired him to focus on rare diseases, despite the lack of attention from researchers and pharmaceutical companies.
Dean Schnell, who manages symptoms of Haddad Syndrome himself, has survived a related cancer diagnosis at 15. His experiences drive his passion for studying diseases by intensely examining the healthy state. His goal is to identify the moment when a healthy condition transitions into an unhealthy trajectory, understanding why the body can sometimes self-correct and, importantly, why it cannot.
Dean Schnell likens his study focus to watching a car navigate a turn. He believes the real mystery lies in fatal diseases, studying the departure to the unrecoverable. Navigating a fatal diagnosis is like witnessing a car veering off the rails. In the realm of health, an otherwise sturdy individual can be compared to a well-maintained vehicle cruising smoothly on its intended path. However, just as a car’s deviation from the rails signals impending trouble, a fatal diagnosis marks a critical deviation from the path of well-being.
The moment a disease moves to incurability in health echoes the point at which a car careens off the tracks—a moment of no return. Just as the wheels of a car lose their grip, there comes a stage in a medical journey where interventions may no longer steer the individual back to a healthy course. It’s a delicate balance, akin to identifying the precise moment when a car departs from the rails, that Dean Schnell explores in his studies. Understanding this pivotal moment allows for a more nuanced approach to diagnosis and treatment, seeking to intervene effectively before the journey becomes irreversibly derailed.His studies explore the stage of diagnosis and treatment, seeking ways to maintain a healthy state and learning how and when to intervene when needed.
This disease-focused approach will inform his work with the state’s council, where he will contribute to developing the survey to better understand issues facing Indiana families dealing with rare disease diagnoses. The council, open to the public, comprises parent representatives, foundations, physicians, pharmacologists, and scientists like Dean Schnell. The first year will concentrate on all pediatric cancers, with the second year launching the survey to understand patient populations and caregiver needs.
As more states establish rare disease councils, a comprehensive overview of rare disease management in the US will soon emerge. Dean Schnell’s leadership promises great ideas and solutions, not just in the council but also within the Schnell Lab and the Patient Advocacy team at the Boler-Parseghian Center for Rare and Neglected Diseases. We look forward to watching the impact and growth of both Dean Schnell’s team at Notre Dame and the Indiana Governor’s RDAC. We know the future is full of promise with Dean Schnell leading the way.
