The NR2F1 Foundation had a tremendously successful year in 2022, and as the year comes to a close, the foundation looks back on all that has been accomplished in the past 12 months. This success has been possible only with the help of families, donors, friends, and the BBSOAS community. The foundation has a commitment to providing resources and education to the BBSOAS community and works towards expanding the amount of global research being done.
Highlights of the 2022 Family and Scientific Conference
In April 2022, the foundation hosted its first-ever Family and Scientific Conference in Orlando, Florida, attended by 180 attendees from 21 states and 10 countries, both in person and virtually. The NR2F1 Foundation Patient Registry/Natural History Study was launched at the conference, along with lectures and a lunch buffet.
The second day was dedicated to a day of family fun for all attendees. The eagerly anticipated registry was exclusively launched for the BBSOAS community worldwide to help with ongoing research and new trials. The ability to connect with other families going through many of the same struggles and knowing they weren't alone was cited by many attendees as the highlight of the conference.
Raising Funds for Research
Raising funds for genetic research is one of the main goals of the foundation, for the purpose of finding new therapeutic treatments for those living with rare mutations of the nr2f1 gene.
Health Equity Grant Awarded to NR2F1 Foundation
In 2022, the NR2F1 Foundation was a member of COMBINEDBrain, a non-profit patient advocacy foundation, which was awarded a Global Genes Health Equity RARE Patient Impact Grant. As a member of COMBINEDBrain, the NR2F1 Foundation benefited from the grant, which will be employed to translate consent forms and health questionnaires into several languages, thereby expanding the pool of potential research participants.
Recipient of a $17K Matching Grant
A one-time matching $17,000 grant was given to the foundation for a study into how BBSOAS works. The grant application was initiated by Dr. Kyle J. Horning and Dr. Terry Jo Bichell of COMBINEDBrain and was given by The Orphan Disease Center (ODC) JumpStart Research Tools Matching Grant Program at the University of Pennsylvania in partnership with the Jackson Laboratory Rare Disease Translational Center. The grant will be used for research to discover new medications and treatments for BBSOAS using mouse models.
Chicago Marathon Fundraiser Boosts Fundraising
To raise money for the NR2F1 Foundation, Tim Coughlin and Chris Schastok entered the Bank of America Chicago Marathon in October. After Tim and his wife Jennifer’s youngest daughter was diagnosed with BBSOAS earlier in the year, the family discovered the foundation and attended the conference in Orlando virtually. Tim's friend Chris made the decision to run the marathon to raise money for research, and Tim joined him. The duo raised $130,000 by race day on October 9, 2022, with more funds continuing to come in after the race. The funds will be used for research to improve the lives of those living with BBSOAS.
NR2F1 Foundation Welcomes 7 New Board Members
The NR2F1 Foundation also welcomed seven new board members over the past year. These new members bring a wealth of knowledge and experience to the Foundation and are committed to providing resources and education to the BBSOAS community.
Understanding a Genetic Report
The Foundation is honored to present a document compiled by Dr. Kyle Horning specifically for the BBSOAS community, to aid in understanding a genetic report. The document, which can be viewed on the Foundation's website, will help families better understand the scientific terminology and use the information to be better advocates for themselves and/or their children. The document will be translated into several languages, making it more accessible to families worldwide.
Conclusion
In conclusion, the NR2F1 Foundation had a successful year in 2022, and the Foundation is grateful for the support of families, donors, friends, and the BBSOAS community. The Foundation is committed to continuing its work to provide resources, education, and research to improve the lives of those who live with BBSOAS.
