With 2024 having come to an end, we want to take a moment to look back on all that we achieved. The NR2F1 Foundation has accomplished a great deal, especially in the realm of research.
Without your support, as well as that of our donors, friends, family, Scientific Advisors, COMBINEDBrain partners and the BBSOAS community, we could not have done any of this. We are appreciative of your unwavering support!
NR2F1 Board Strategic Planning Meeting
A big event right out of the gate was the Foundation’s strategic planning meeting at the end of January. Seven members of the board of directors and a facilitator met in person in Atlanta, GA, along with 5 members attending virtually. They spent 13 hours discussing the key priorities the board should focus on for the next five years.
The talks were meaningful, intense, challenging, and extremely productive. The outcome included improving the mission statement, creating a strategy of how to best serve and engage the BBSOAS community, along with research priorities for the Scientific Advisory Board to pursue.
Six committees were created, each with a separate focus, in order to achieve the goals that were set.
Million Dollar Bike Ride
My, what a ride! In June, over 750 cyclists and volunteers participated in the Million Dollar Bike Ride in Philadelphia, PA. Every year the Penn Medicine Orphan Disease Center hosts the ride to raise money for rare disease research. This year 11 cyclists, representing the NR2F1 Foundation and headed by BBSOAS mom and board Secretary, Jen Nicholl, comprised one of the 39 teams that rode to raise funds for the diseases they represented.
The fundraiser was a success! The team rode 32 miles throughout the city on a beautiful sunny day. Thanks to the generosity of many people supporting the NR2F1 community and those living with BBSOAS, the total amount raised was $27,000. All funds were used for ongoing research.
Fundraising
Fundraising didn’t stop there, it included these amazing campaigns:
She raised the ‘dough’ for us! Thank you Sarah, read how Aunt Sarah used her baking skills to fundraise for the Foundation.
Facebook Fundraisers: thank you so much for the initiative to start your own independent campaigns to raise for us. From those of you that raised $20, to Katia showing how she could rally her network and raise $5,000 in a week, we appreciate you ALL.
Halloween Party Organizer: Thank you to Kimberley B for hosting an annual Halloween party at a local bar in PA and raising $1,400 by marking up tickets to include a donation to the NR2F1 Foundation on behalf of BBSOAS Maggie.
Yard Sales: Thanks to Sidelle’s mom for donating her yard sale takings of $350.
Giving Tuesday matching donation families – a giant thank you to our generous families that put together the $17,500 matching offer. Big shout out to moms Kari and Hayley for all the effort they put into promoting Giving Tuesday to their networks on our behalf. What a difference you made!
Twitch Stream – thank you to dad James for having the creative idea of making a fundraiser on his twitch stream.
First Research Strategy Meeting
After the strategic planning meeting in January when we developed our overall 5-year strategy, the foundation held an all-day research strategy meeting in October to plan the research goals we wanted to accomplish moving forward.
Meeting at the University of Denver in Colorado, attendees included not only our board members but also our scientific advisors, meeting in-person and virtually to discuss the best use of science and money.
We also had the added pleasure of having local BBSOAS families come and meet the scientific advisors, a truly wonderful experience.
New 3-year Research Roadmap
The outcome of that meeting was a 3-year Research Roadmap.
As a Foundation we want to speed up the understanding of BBSOAS and most importantly, find treatment for our children and families. To do this, we need to raise $365,000 to drive our research roadmap in year 1. Though this seems incredibly large, we know that with work it can be achieved.
What will $365,000 fund in the Research Roadmap in year 1?
- 3 Post Doctoral researchers to work alongside our lead scientists to exclusively research NR2F1 and BBSOAS for 3 years in US, France and Germany (will require additional fundraising for year 2 and 3)
- A NR2F1 ‘New Investigator’ grant to attract junior researchers to research the NR2F1 gene
- Develop a new BBSOAS mouse model
- Discovery of BBSOAS Biomarkers – we will host a biorepository collection at our 2024 Family Conference and develop a BBSOAS biomarker
The details of the different research projects are outlined in our blog post Research Strategy Goals.
And we didn’t stop there. We also:
- Funded Dr Shah’s lab to test two compounds for the treatment of BBSOAS
- Funded Dr Schaaf’s TRIP BBSOAS research
- Collected BBSOAS samples for our NR2F1 Biorepository
- Overhauled the NR2F1.org website, added published papers, newly diagnosed recommendations and made the website available in multiple languages
- Hosted 5 virtual family support sessions for BBSOAS parents
- Grew the patient registry – keep signing up!
- Implemented a new CRM tool, Givebutter, to track all our contacts, diagnosed families, donations and communications
- Grew our volunteers! Thank you to those who stepped forward from our newsletter appeals for help
Planning for the 2024 BBSOAS Family and Scientific Conference
With 2023 at a close, plans have been underway for the 2024 Family and Scientific Conference in April. Our last conference in 2022 had 180 attendees from 10 different countries and 21 US states, and since then the NR2F1 Foundation and community has grown. Planning and hosting a conference both in person and virtually of this size is not cheap, and is estimated to cost about $35,000.
We’re looking for sponsors who can help with donations to offset the cost of the conference. Businesses can promote their business by having there logo appear on materials , and support the BBSOAS community.
We look forward to 2024, we are very excited about what is to come – watch this space for our biggest year yet!
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.
