NR2F1 Foundation Receives Matching Grant

The NR2F1 Foundation is the recent recipient of a $17,000 grant that will go towards researching the mechanisms of how BBSOAS works. The funding will be used for studies using mouse models to develop new medications. Dr. Kyle J. Horning and Dr. Terry Jo Bichell, PhD, MPH, of COMBINEDBrain initiated the grant application and were successful in helping us win it.

Dr. Horning earned his PhD in neuroscience in 2020 from Vanderbilt University and joined COMBINEDBrain in 2021 as a postdoctoral science officer. Dr. Bichell earned her PhD in neuroscience from Vanderbilt University and founded COMBINEDBrain in 2019 to help with clinical trial preparations for rare and very rare neurogenetic disorders.


NR2F1 Foundation extends a heart-felt thank you to Drs. Horning and Bichell for their assistance in working on and winning this grant. The $17,000 grant is a one-time matching grant given by The Orphan Disease Center (ODC) JumpStart Research Tools Matching Grant Program at the University of Pennsylvania, partnering with Jackson Laboratory Rare Disease Translational Center for the purpose of creating a mouse model for researching BBSOAS.

The JumpStart initiative of the Orphan Disease Center aims to build and advance research agendas in emerging and understudied rare diseases. To advance the discovery of therapies for rare diseases, the JumpStart initiative closely collaborates with patient organizations, foundations, pharma, biotech, and the academic community.

The JumpStart program fosters scientific cooperation by establishing connections between patients, foundations, and researchers. They offer essential assistance in developing tools needed for research like animal models and cell lines, as well as providing assistance with the creation of a registry and other programs. By sharing information on best practices, they help organizations that work with rare diseases put together a research grant program.

Matching Grant Winner
The Jackson Laboratory Rare Disease Translational Center collaborates with foundations and their researchers in the creation of customized mouse models with clinical mutations to formulate treatments and cures for rare diseases. They work closely with medical organizations and hospitals to help diagnose rare diseases. The Center also works with pharmaceutical and biotech firms to customize treatments to help speed the process of finding new treatment options for these disabling diseases. A disease is considered rare in the United States if less than 200,000 persons are affected by it. Globally, out of the 300-400 million individuals that are affected by any of the 7000 known rare diseases, the majority are children.

In order to study the mechanisms underlying human disease, animal models are a critical tool. The process of finding new drugs requires the use of mouse models. Many researchers of very rare disorders lack an identified mouse line to be able to start working on examining the causes of rare diseases. One of the initial steps in creating therapeutics is figuring out these mechanisms. Dr. Horning noted, “Generating a specific mouse like this, just on its own, is a large and important step for advancing research in any rare disease. But even further, having that mouse model be readily available for any future researcher to study is very exciting. I’m thankful to the ODC and Jackson Labs for providing this opportunity to progress BBSOAS research.”

Please help NR2F1 Foundation in raising the required $8,000 in matching funds. Go to our Donation page to make a secure donation.

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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