Dr. Vincent Riccardi is a foundational figure in the field of neurofibromatosis (NF) research. His dedication to understanding NF1 extended beyond tumor development—he recognized the broader, systemic impact of the condition and championed a whole-person approach to care tackling the parts of the condition that cause suffering and celebrating the parts of the that make people with NF1 unique and wonderful.
In honor of NF awareness month and recognizing the tremendous void left with Vic’s death in 2024, we explored his lasting impact through the lens of the Francis Collin’s Scholars he impacted. Here we start with Dr. Miriam Bornhorst, a pediatric neuro-oncologist specializing in NF1 research. Dr. Bornhorst has built her career around improving the lives of NF1 patients and is leading innovative research on the role of metabolism in NF1. In this interview, she reflects on Dr. Riccardi’s influence on her work, his broader contributions to the field, and how his whole-patient approach continues to influence NF1 research and treatment today.
The Inspiration Behind a Career in NF1 Research
Dr. Bornhorst’s path to NF1 research was not a direct one. Initially drawn to infectious disease, she pivoted to pediatric neuro-oncology after a clinical rotation revealed the varied and complex aspects of NF. Under the mentorship of Dr. Patricia Robertson, she began studying optic pathway gliomas in NF1 patients, comparing them to those in non-NF1 patients. “I realized how complex NF1 is. It affects multiple body systems, including GI problems, cardiac issues, seizures, psychological problems, in addition to tumors. It required looking at the whole person rather than just one medical aspect. That really appealed to me.”
Her research continued with Dr. Yuan Zhu, a leader in NF1 studies who served as her mentor when she was selected as a Francis S. Collins Scholar. She explored the use of MEK inhibitors to prevent tumor growth and address NF1-related complications. Her specific focus was on whether early administration of MEK inhibitors could prevent the formation of optic pathway gliomas in NF1 models.
After completing this research, Dr. Bornhorst shifted her focus toward studying metabolism, a direction that was brought forward in her interactions with Dr. Riccardi.
A Meeting of Minds: Dr. Bornhorst and Dr. Riccardi
Dr. Riccardi was known for his deep knowledge and broad perspective on NF1, advocating for a care model that went beyond tumors to encompass the full scope of patient challenges. “He saw NF1 as not just a tumor disorder, but a whole-body condition,” Dr. Bornhorst explained.
When Dr. Bornhorst expressed interest in exploring the role of metabolism, NTAP Executive Director, Dr. Jaishri Blakeley, suggested she speak with Dr. Riccardi. Their conversation solidified her commitment to this underexplored area of NF1. He said, ‘Yes, study metabolism. This is important.’”
With his support, she founded the Metabolism Interest Group, which held its first meeting at the Children’s Tumor Foundation conference in Arizona in 2023. What started with seven members has now grown, drawing increasing collaboration on attention to the role metabolism plays in NF1.
Expanding the Field: Dr. Bornhorst’s Metabolism Research
Dr. Bornhorst’s research explores metabolic abnormalities associated with NF1. “One of the things that I found interesting is that when we were treating mice with NF1 to prevent their optic pathway tumors, we were also improving their overall health. The mice were larger in size. They gained weight. They didn’t have respiratory problems. There was this clear, obvious shift in terms of metabolism.”
This could have important implications for NF1 patients. Many individuals with NF1 experience low body weight and metabolic abnormalities, yet the underlying cause has remained elusive. Dr. Bornhorst’s work suggests that dysregulated signaling through the RAS/MAPK pathway may be disrupting normal metabolic function.
Her next step is to investigate whether these metabolic shifts could serve as early biomarkers for tumor development. “We know that tumors need an environment conducive to growth,” she explained. “By studying metabolic changes, we may be able to better understand when tumors might be forming, which could lead to more effective interventions.”
In addition, Dr. Bornhorst’s team is exploring whether dietary modifications or metabolic-targeted therapies could help prevent tumor formation in NF1 patients. “Not everyone with NF1 develops tumors, which suggests there are multiple factors at play. If we can influence metabolism in a way that makes the environment less favorable for tumor growth, we may be able to reduce risk.”
Dr. Riccardi’s Lasting Influence on NF1 Research
Dr. Riccardi’s approach to NF1 care was as much about improving quality of life as it was about treating tumors. He was a strong advocate for addressing overlooked patient concerns, such as chronic itching, pain, and fatigue—issues that significantly impact daily life but are often deprioritized in clinical research.
One example of his innovative approach was his advocacy for ketotifen, an antihistamine and mast cell stabilizer, to alleviate itching in NF1 patients. “He was willing to try things that didn’t have perfect proof of why they worked, because he wanted to deliver patient-centered care and he had the clinical experience to back it up,”
Dr. Riccardi’s patient-first mindset extended beyond treatment to mentorship. “He made himself available, no matter what,” Dr. Bornhorst recalled. “I could email him with a question and he’d reply, ‘Do you have time in an hour?’ He genuinely wanted to help, and he had this incredible breadth of knowledge.”
Even in his later years, Dr. Riccardi remained deeply engaged in the NF1 research community. Despite increasing health requirements, he was committed to attending conferences, always eager to share his insights and mentor young researchers. His wife, Susan Riccardi, a nurse and patient advocate in her own career, was a constant source of support to Vic and his trainees, ensuring that he could continue contributing to the field he shaped and loved.