2021 BBSOAS Research Update

Image contains 5 graphics depicting 5 countries including France, the U.K., the U.S.A, Germany and the Netherlands. in the center is a graphic of 5 hands reaching towards each other touching fingers in a circle

October marked the first BBSOAS collaborative research meeting with Michele Studer (France), Patrick Yu Wai Man (England), Danielle Bosch and Ninke Boonstra (Netherlands), Veeral Shah, Jane Edmond, Nilesh Desai, Sophia and Ming Jer Tsai (all USA), and Magdalena Laugsch and Christian Schaaf from Germany. These researchers who have all focused on different aspects of NR2F1 and to different degrees were able to connect with one another and discuss future projects and research avenues for BBSOAS. Bringing their diverse expertise and knowledge of BBSOAS together is a very exciting step towards advancements in understanding what impact NR2F1 has on the body and through development.

The NR2F1 Foundation is excited to announce that 4 additional iPSC lines are being created to represent our patients with deletions, mutations in the DNA Binding Domain, mutations in the Ligand Binding Domain and mutations at the initiation site. These cell lines which provide an ideal mechanism for the clinical side of research – meaning treatments to help our BBSOAS patients – were able to be created at a steeply discounted cost to the Foundation as part of our COMBINEDBrain membership. They will be housed in the lab of Dr. Shah at Cincinnati Children’s Hospital, and the goal is to create a mouse model that represents these BBSOAS patient types and can be used for studies in parallel as well.


Vice President of Board of Directors at NR2F1 Foundation | Website

Carlie is the Vice 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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