The NR2F1 Foundation (Arizona, USA) has awarded funding for a two-year research grant to be carried out at NICO – University of Turin, under the leadership of Prof. Silvia De Marchis from the Adult Neuroplasticity research group.
Following a competitive selection process, Dr. Eleonora Dallorto was selected as the winning candidate. Her research project aims to clarify the link between NR2F1 gene dysfunction and impaired mitochondrial function in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS), using in vitro human models based on induced pluripotent stem cells (iPSCs)-derived neurons.
La sindrome di atrofia ottica Bosch-Boonstra-Schaaf (BBSOAS)
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare genetic condition affecting the NR2F1 gene. It is associated with vision problems, developmental delay, epilepsy, and intellectual disability. Everyindividual with BBSOAS is affected differently. BBSOAS is extremely rare, with about 500 known cases worldwide to date. Diagnoses are expected to rise with increased awareness and the use of genetic testing.
INCIDENCE RATE: It is estimated that BBSOAS may affect 1 in 250,000 newborns each year (Schaaf, 2023). Approximately 4,000 babies worldwide are expected to be born each year with a variant in the NR2F1 gene.
Mitochondrial dysfunction: a new frontier in BBSOAS research
While NR2F1 is known to play a critical role in neural development, many questions remain about how disruptions in this gene lead to the diverse symptoms experienced by people with BBSOAS. The research team at the University of Turin is studying how deficiency in the NR2F1 gene interferes with the function of mitochondria, the cellular structures responsible for producing the energy needed for normal cell function.
Mitochondrial dysfunction has been linked to a wide range of neurological and neurodevelopmental disorders. Understanding whether mitochondrial pathology plays a role in BBSOAS could provide important insights into the mechanisms of the disease and potentially identify new avenues for therapeutic intervention.
By exploring the relationship between NR2F1 and mitochondrial function, this research aims to deepen our understanding of the syndrome and generate crucial data that can guide future therapeutic strategies.
Strengthening knowledge exchange to accelerate scientific progress
Dr. Dallorto also brings a unique connection to the scientific community dedicated to NR2F1 research. She has just completed a joint PhD between the University of Turin and the University of Nice, under the supervision of Prof. De Marchis (pictured below with the researchers from her research team at NICO) and Prof. Michèle Studer, one of the world’s leading experts in NR2F1 study and a member of the Scientific Advisory Board of the NR2F1 Foundation.
Her postdoctoral position at NICO represents an important step forward in continuing the research developed during her PhD. Ensuring continuity for the experience gained in two internationally recognized NR2F1 laboratories strengthens collaboration, accelerates knowledge exchange, and builds a solid foundation for future scientific breakthroughs.
We are grateful to the members of the NR2F1 Foundation for their support and commitment to promoting research on BBSOAS. Their contribution goes far beyond financial support: building a collaborative and supportive community, as well as fostering dialogue between patient families, clinicians, and researchers, is invaluable for advancing research and giving concrete meaning and direction to our work.
Prof. Silvia De Marchis
Italy, France, Germany, USA: a global research network
The NR2F1 Foundation’s support for NICO’s research strengthens an international network of scientists active in France (Dr. M. Studer, Univ. Côte d’Azur), Germany (Dr. Christian Schaaf, Heidelberg University), and the United States (Dr. Veeral Shah, Cincinnati Children’s Hospital Medical Center), all united by a common goal: to accelerate discoveries that will improve the lives of people living with BBSOAS.