The NR2F1 Foundation had a tremendous year of achievements in 2022, so as the year has come to a close, we look back and reflect on all that has happened during the last 12 months. These accomplishments have only been possible with the help of our families, our donors and friends, and the BBSOAS community.
2022 Family and Scientific Conference
In April we hosted the very first Family and Scientific Conference in Orlando, Florida. Originally scheduled for October, 2020, the date was changed 3 times before we succeeded. Attended in-person and virtually, 10 countries and 21 states were represented by the 180 attendees. The conference included presentations, a lunch buffet, and the launch of the NR2F1 Foundation Patient Registry/Natural History Study. The second day was a day of Family fun for everyone.
Eagerly anticipated after being in the works for months, the registry was launched exclusively for the worldwide BBSOAS community to help with continuing research and new trials. Many attendees said the highlight of the conference was being able to meet other families experiencing many of the same challenges and knowing they were not alone.
Health Equity Grant
COMBINEDBrain, a non-profit patient advocacy foundation, was awarded a Global Genes Health Equity RARE Patient Impact Grant of $15,000. As a member of COMBINEDBrain, we benefit from the grant which will be used to translate consent forms and health surveys into different languages. This will increase the number of patients that will be able to participate in research. Read More HERE.
We received a one-time matching $17,000 grant for research into how BBSOAS works, using studies with mouse models to discover new medications and treatments. The grant application was successfully initiated by Dr. Kyle J. Horning and Dr. Terry Jo Bichell, PhD, MPH, of COMBINEDBrain. We are very thankful for their help in working on and winning this grant. The grant was 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.
Chicago Marathon Fundraiser
In October, Tim Coughlin and Chris Schastok ran the 2022 Bank of America Chicago Marathon to raise funds for the NR2F1 Foundation. After Tim and his wife Jennifer received a diagnosis of BBSOAS for their youngest daughter, Edith, earlier this year, they discovered the foundation and virtually attended the conference in Orlando. Wanting to help raise money for research, Tim’s good friend Chris decided to run and Tim joined him.
With no idea of what to expect from donations, they were able to raise $130,000 as of race day on October 9, with more funds continuing to come in after the race. The money will be used for research to change and improve the lives of those who live with BBSOAS.
“Thanks to their support and all who donated, current research projects underway can be expanded upon, as well as exploration of other avenues that were not otherwise financially viable… will yield… a better life and hope on the horizon for children like Edith and her international BBSOAS family. The NR2F1 Foundation Board is grateful beyond words.”
-Carlie Monnier, Board President
Fundraising for Research
One of the main objectives of the foundation is to expand the amount of global research being done for BBSOAS. We have launched a research project called TRIP BBSOAS (Translational Research Investigating Phenotype of BBSOAS). Scheduled to start early this year, it will be a joint project between two experts and researchers. Dr. Christian Schaaf, as an expert in BBSOAS with a lab in Heidelberg University in Germany, will work together with Dr. Michele Studer, an expert on the NR2F1 gene, and her lab at the University of Nice, France. The goal of the project is to get insights in the role of NR2F1 in brain development, and its downstream targets and pathways, as well as information as the basis of future therapeutic treatments for BBSOAS patients. Learn More
7 New Board Members
The NR2F1 Foundation voted in 7 new members to the board of directors over the past year. Our newest members are: Katia Roda, a registered nurse, anesthetist, and BBSOAS mom; Ashlee Manjon-Stierstorfer, retail shop owner, works at a cancer center and BBSOAS mom; Stacy Nelson-O’Connell is a Certified Oola Life Coach, small business accounting specialist, and BBSOAS mom; Brigette Hinger contributes to our newsletter, manages the foundation store, and is a BBSOAS mom; Linda Beck is a photographer, personal assistant, CNA for her daughter, and a BBSOAS mom; Tim Coughlin works for Morgan Stanley in Europe, Middle East, and Africa, and is a BBSOAS dad; and Jennifer Coughlin, who worked as a business manager at UBS, and is a BBSOAS mom.Welcome to all our new members, we are fortunate to have them. Go HERE to learn more about them and the role they play.
Special Shout Out
The NR2F1 Foundation expresses gratitude to the law firms King & Spaulding LLP (Atlanta GA) and Coughlin Midlige & Garland LLP (Morristown, NJ) who will be representing the foundation pro bono. A very big thank you to Patrick of CMG for making all of this happen.
The NR2F1 Foundation is always looking to forge new partnerships and memberships and 2022 was no exception!
We amped up our Candid membership from Bronze to Gold status.
We joined the Global Genes Global Advocacy Alliance.
We joined the National Organization for Rare Disease as a Platinum member.
Understand your genetic report
The foundation works to provide resources and education to the BBSOAS community. This year, we are honored to present a document that Dr. Kyle Horning has put together specifically for the BBSOAS community, which can be viewed on our website (Click HERE to view). Trying to understand the scientific jargon in a genetic report can be frustrating and overwhelming. Families now have a simple method for breaking it down, and more importantly, become empowered with the information they need to speak up for themselves and/or their children. Coming soon, the document will be translated into French, Italian, German, and Spanish.
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.