We are delighted to announce a major new investment in BBSOAS research.
The NR2F1 Foundation has awarded funding for a two-year postdoctoral researcher position at the University of Turin, Italy, under the leadership of Dr. Silvia De Marchis. Following a competitive selection process, Dr. Eleonora Dallorto has been selected as the successful candidate and will begin her position in June 2026.
This new grant will support an important research project focused on investigating the connection between NR2F1 dysfunction and mitochondrial pathology in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS).
Exploring a New Frontier in BBSOAS Research
While NR2F1 is known to play a critical role in neural development, many questions remain about how disruptions to this gene lead to the diverse symptoms experienced by individuals with BBSOAS.
The research team at the University of Turin will investigate whether dysfunction of the NR2F1 gene contributes to abnormalities in mitochondria—the structures within our cells responsible for producing the energy needed for normal cellular function.
Mitochondrial dysfunction has been implicated in a range of neurodevelopmental and neurological disorders. Understanding whether mitochondrial pathology plays a role in BBSOAS could provide important insights into disease mechanisms and potentially identify new pathways for therapeutic intervention.
By exploring the biological relationship between NR2F1 and mitochondrial function, this research aims to deepen our understanding of the disorder and generate critical data that could inform future treatment strategies.
Dr. Dallorto also brings a unique connection to the broader NR2F1 research community. She completed a joint PhD between the University of Turin and the University of Nice, co-supervised by Dr. De Marchis and Dr. Michèle Studer, one of the world's leading experts in NR2F1 biology and a long-standing Scientific Advisory Board member of the NR2F1 Foundation. Her postdoctoral appointment in Turin represents an important step forward in advancing the research developed during her doctoral training. By ensuring continuity of the scientific work, her experience across two internationally recognized NR2F1 laboratories, strengthens collaboration, accelerates knowledge exchange, and lays a solid foundation for future scientific progress.
Strengthening the Global BBSOAS Research Community
Dr. Dallorto's appointment represents another important milestone in the Foundation's commitment to building a global network of researchers dedicated to BBSOAS.
Commenting on the appointment, Dr. De Marchis shared:
"Eleonora's contribution will be extremely valuable in advancing our research, particularly in strengthening our work on the role of mitochondria in the pathogenesis of BBSOAS. Her expertise and dedication will significantly support the development of new experimental approaches and help accelerate several ongoing and planned studies within the group."
The Foundation's strategy is not only to fund research projects but also to invest in scientific talent. Dedicated researchers bring new expertise, new ideas, and increased capacity to accelerate discoveries that can ultimately benefit individuals living with BBSOAS.
More Than Funding Research
Dr Silvia De Marchis, and The University of Turin have become valued research partners of the NR2F1 Foundation over the past 2 years, and this new postdoctoral position reflects the strong collaboration between researchers, clinicians, patients, and families working toward a shared goal.
Dr. De Marchis also emphasized the importance of the broader BBSOAS community:
"I would also like to sincerely thank all the members of the NR2F1 Foundation for your support and commitment to advancing research on BBSOAS. Your contribution goes far beyond financial support: the creation of a collaborative and supportive community, and the dialogue between patient families, clinicians, and researchers are invaluable for driving research forward and giving real meaning and direction to our work."
These words reflect what makes the NR2F1 community so special. Every donation, fundraiser, volunteer, patient registry registration, conference attendance, and research participation contributes to making opportunities like this possible.
As a Foundation, our mission is simple: to accelerate research and find treatments for BBSOAS. Funding dedicated researchers like Dr. Dallorto is one of the most powerful ways we can move closer to that goal.
This appointment further strengthens the Foundation's growing global research network. Dr. Dallorto's work at the University of Turin complements the important research being conducted by our existing Foundation-funded postdoctoral researcher, Dr. Elsa Wassmer, at Heidelberg University under the leadership of Dr. Christian Schaaf. Together, these investments are expanding the scientific expertise and capacity dedicated to understanding BBSOAS and identifying pathways toward future treatments.
In the coming months, we look forward to announcing a new three-year Foundation-funded postdoctoral researcher position at Cincinnati Children's Hospital Medical Center, where Dr. Veeral Shah will lead the first dedicated BBSOAS research laboratory in the United States.
With Foundation-funded researchers now spanning Germany, Italy, and soon the United States, we are building an international network of scientists united by a common goal: accelerating discoveries that will improve the lives of individuals living with BBSOAS.
Together, we are building the scientific foundation needed to change the future for every family affected by BBSOAS.