Research Strategy Goals

First research strategy meeting

In January this year we held our first ever Strategic Planning session and developed our 5-year strategy (check it out here on our website). On October 7, 2023, we held our first Research Strategy session at the University of Denver.  Along with our board members, we brought together the NR2F1 Scientific Advisors in person for a day to talk about all the research that’s currently underway, and how the Foundation can help move it forward.

research meeting participants
Based on our discussions with our Scientific Advisors about the best use of science and money, we have come up with a 3-year Research Roadmap and the list of initiatives we would like to initiate, which of course comes along with a hefty price tag.  We have, however, decided as a Foundation we want to tackle this ambitious goal head on as it’s the only way we feel research can really move forward.  We need to raise an incredible $365,000 to make it happen (and that’s excluding our operating costs to run the Foundation).

New 3-year research roadmap

What does our three-year Research Roadmap include?

  1. Fund 3 Postdoctoral researchers for 3 years to work alongside our lead scientists (this will require year 2 and 3 fundraising in addition)
  2. Create a NR2F1 New Investigator grant to attract junior researchers to research the NR2F1 gene
  3. Develop a new mouse model
  4. Biomarkers – host a biorepository collection at our 2024 Family Conference and develop a BBSOAS biomarker

As a Foundation we have worked tirelessly over the past 5 years to get to this point, and we are now very much target orientated and determined to live our mission to empower families living with rare NR2F1 gene variants through education, advocacy and research.

During the meeting, one of our Scientific Advisors, Dr. Veeral Shah, (Cincinnati Children’s Hospital), one of the experts in BBSOAS, shared an update on a project currently under, which the Foundation has recently funded. Dr. Veeral Shah

Discovery of C26 compound

NR2F1 is the gene that causes BBSOAS, but in other parts of the body, NR2F1 can play a role in cancer. (Please note, there is NO LINK between BBSOAS and increased risk of cancer).  A cancer researcher, Dr. Julio Aguirre-Ghiso at Mount Sinai, discovered a compound called C26. He found that C26 slowed the growth of cancer cells in a dish, by increasing NR2F1. He then tested C26 in mice who had tumors, and found similar results.

Connection of C26 to BBSOAS

Dr. Kyle Horning, the previous scientific advisor for the NR2F1 Foundation, read Dr. Aguirre-Ghiso’s paper and immediately saw a connection to BBSOAS. In BBSOAS, there is less functional NR2F1 protein in the brain and eyes than there should be, because of mutations in the NR2F1 gene. Increasing the amount of NR2F1 might help treat BBSOAS. So, Dr. Horning told the BBSOAS experts about this exciting discovery and suggested that they work together to test C26 in mice with BBSOAS.

There was a major problem, however. No one knew if C26 could cross the blood-brain barrier (BBB). The BBB is a protective layer around the brain that ensures only certain molecules can get from the bloodstream into neurons. Many potential medicines are blocked by the BBB, and so the compounds don’t end up working as medicines for brain problems. another childchild

Testing the blood brain barrier

So, the first step is to find out if C26 can get through the BBB and into neurons. Dr. Veeral Shah is working with a pharmacology team to test this. But what if C26 can’t get into the brain?

Since Dr. Aguirre-Ghiso published the C26 paper in 2022, he has discovered a couple of additional molecules that also increase NR2F1. These compounds, called C104 and C110, have the same challenge as with C26 – we don’t know if they cross the BBB either. However, the shape of each of these three molecules is very different, so even if one of them is not able to get into the brain, one of the other options might be successful.

Funding to find the best option for mouse testing

Dr. Shah is generously funding the acquisition and testing of C26 from his lab. To show our gratitude for his efforts, and to streamline the development of a treatment for BBSOAS, the NR2F1 Foundation has voted to fund the acquisition of C104 and C110. This project will let researchers know which is the best option to test in mice. They will investigate whether any of these compounds can treat some of the symptoms of BBSOAS in mice with NR2F1 mutations.  We will obviously keep you updated on this exciting research initiative as it progresses over the coming months.

Link to Julio’s paper:

A citation for decreased NR2F1 function in BBSOAS:

research meeting

research meeting discussions


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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