The NR2F1 Foundation has made the growth of a global research network for BBSOAS research one of its main goals. They have committed to provide the startup funds for a new research project called TRIP BBSOAS (Translational Research Investigating Phenotypes of BBSOAS).
BBSOAS Research Project
The Foundation is delighted to have played a part in bringing two professionals and researchers in the fields of the NR2F1 gene and BBSOAS together. Dr. Christian Schaaf, a researcher in neurogenetics with a lab at the Heidelberg University in Germany, and Dr. Michele Studer, an expert in genetics, gene regulation and expression, and neurobiology and brain physiology will be combining their expertise in this new project.
NR2F1, also known as COUP-TFI, is a critical element of brain development, specifically in the structure of the neocortex. When the NR2F1 gene is mutated or defective, individuals experience Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS), a genetic neurodevelopmental disorder. Linguistic and cognitive impairments, epileptic seizures, autism-like symptoms, poor fine motor coordination, and optic atrophy are all clinical manifestations of the condition.
Dr. Michelle Studer
Dr. Michele Studer of NR2F1 France has a lab at the University of Nice, France. One of Dr. Studer's principal research interests in this area is COUP-TFI/NR2F1 in neurodevelopmental cortical diseases. Dr. Studer and other clinicians and medical professionals recently discovered a new brain anomaly connected to this illness and identified it in a publication. More information about their discovery can be found Here.
Dr. Christian Schaaf
Dr. Schaaf is credited with being one of those who discovered the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. He is the Medical Director and Department Chair of the Institute of Human Genetics at Heidelberg (Germany) University. In addition to that, he also teaches as a Visiting Professor at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute in Houston, Texas.
Not only is Dr. Schaaf a researcher, he also works as a clinician to help children with unique disorders, particularly neuropsychiatric and neurodevelopmental conditions like bipolar disorder, schizophrenia, and autism spectrum disorders. He advocates tirelessly for his patients and helps their families learn about how human genetics can benefit them. In cooperation with family support organizations, he works diligently on therapeutic approaches and treatment plans that will improve the quality of life for people with neuropsychiatric illnesses.
Joint Global Project
This new joint between Drs. Studer and Schaaf is slated to start at the beginning of 2023. The project's objective is to gather information that can be used to build future therapy regimens as well as get a broad understanding of how NR2F1 functions during brain development.
Fundraising
The Foundation is looking for help and monetary support as they invest in a better future for everyone affected by the rare disease, BBSOAS.
The NR2F1 Foundation provided the impetus in creating a ‘dream team’ by connecting Dr. Studer, an expert in BBSOAS, and Dr. Schaaf, an expert in Nr2f1. They are looking for investments and financial support to fund TRIP BBSOAS (Translational Research Investigating Phenotypes of BBSOAS). The hope is to learn more about the role of the r2f1 gene during development of the brain, along with its targets and pathways downstream, and create the basis for new medical treatments.
The NR2F1 Foundation and the NR2F1 Foundation Global Alliance
