NR2F1 Research Fundraising Campaign

One of the primary objectives of the NR2F1 Foundation has been the expansion of our global research network for BBSOAS research. We will provide initial funds for a project called TRIP BBSOAS (Translational Research Investigating Phenotypes of BBSOAS).

The Foundation is very pleased to have had a role in connecting two experts and researchers in the fields of BBSOAS and the NR2F1 gene. Dr. Christian Schaaf of the NR2F1 Foundation and his lab at Heidelberg University in Germany will be combining forces with Dr. Michele Studer of NR2F1 France and her lab at the University of Nice, France.

Schaaf Lab LogoBBSOAS Research

NR2F1 is a crucial component of brain development, namely in the neocortex’s organization, and commonly referred to as COUP-TFI. A genetic neurodevelopmental disorder known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome affects individuals when the NR2F1 gene is defective (BBSOAS). Clinical signs of the condition include cognitive and verbal difficulties, epileptic seizures, symptoms resembling autism, impaired fine motor coordination, and optic atrophy.

Dr. Michelle Studer

Dr. Michelle Studer

As one of the primary researchers in this field, one of Dr. Studer’s main interests is COUP-TFI/NR2F1 in neurodevelopmental cortical disorders. In a recent publication, Dr. Studer, along with other clinicians and physicians, identified a new brain abnormality linked to this condition. More details about their discovery can be found Here.

Dr. Christian Schaaf

Dr. Schaaf is the Medical Director and Department Chair of the Institute of Human Genetics at Heidelberg University (Germany). He is also a Visiting Professor at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute in Houston, Texas. He is crediting with discovering the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

A researcher as well as a clinician, he is committed to helping children with unique needs, especially those who suffer from neuropsychiatric and neurodevelopmental conditions like bipolar disorder, schizophrenia, and autism spectrum disorders. An advocate for his patients, he helps educate the families on the benefits of human genetics. He works diligently on treatment strategies and therapy options that will enhance the quality of life for people with neuropsychiatric diseases, in collaboration with family support organizations.


Joint Research Project

This joint project between Drs. Studer and Schaaf will be aimed at acquiring knowledge that will not only be used as the basis of future therapeutic regimes but also intend to get general insights in the role of NR2F1 in brain development, and its downstream targets and pathways. This project will be underway at the start of the new year, 2023.

Help us as we invest in a better future for everyone affected by the rare disease, BBSOAS.

The NR2F1 Foundation’s top priority for BBSOAS research has been to grow our international research network and strengthen the NR2F1 Foundation Global Alliance.

The NR2F1 Foundation was the catalyst in connecting Dr. Michele Studer with Dr. Christian Schaaf, creating a ‘dream team’ of experts in their respective fields: one in the NR2F1 gene and one in BBSOAS, respectively.

How you can help

With your investments, we will be able to jumpstart a project called TRIP BBSOAS (Translational Research Investigating Phenotypes of BBSOAS). We will learn more about the function of the NR2F1 gene during brain development, as well as its downstream targets and pathways, thanks to the collaboration between Drs. Studer and Schaaf. Significantly, it might also serve as the foundation for new medical therapies.

Your investment is for a better life and future hope for everyone living with BBSOAS.

BBSOAS fundraising

The NR2F1 Foundation and the NR2F1 Foundation Global Alliance

President of Board of Directors at NR2F1 Foundation | Website

Carlie is the President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.

With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.

Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.

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