While this is a rare diagnosis, you are not alone!
Dear NR2F1 Parents,
As parents of children affected by an NR2F1 variant, we understand the unique challenges and joys that come with raising our extraordinary children. We want to share a list of important actions that can greatly contribute to your child’s care and support, as well as provide you with valuable resources and connections within the NR2F1 community.
1. Bookmark our NR2F1 Website
Explore our comprehensive website, www.nr2f1.org, which serves as a hub of information and resources specifically tailored for NR2F1 families. You’ll find a wealth of information about the condition, research updates and papers, treatment options, support networks, and more.
2. Sign up for the NR2F1 Newsletter
Subscribe to our NR2F1 Newsletter to stay informed about the latest research breakthroughs, treatment updates, advocacy efforts, and community events.We publicize opportunities to volunteer and fundraising ideas too. Registering also helps us track the number of diagnosed cases around the world
3. 2024 BBSOAS Family Conference
Under the ‘Family Resources’ tab, take a look at information on our upcoming Family Conference.The conference will take place in Florida April 3-5 2024, both in person and virtually
4. Sign up for the NR2F1 Patient Registry
Join the NR2F1 Patient Registry to contribute to advancing NR2F1 research. Registering provides valuable opportunities to participate in surveys and clinical trials, shaping the future of NR2F1 care.
- Upload your Child’s Genetic Report:Ensure you upload your child’s genetic report to the patient registry site. This information helps researchers and medical professionals gain deeper insights into NR2F1 and aids in developing tailored treatment approaches.
- Complete Yearly ClinGen Surveys in the Patient Registry:These contribute to a better understanding of NR2F1, its symptoms, treatments, and outcomes.
5. Apply for a CRID Number
Apply for a Clinical Research ID (CRID) number for your child here. This unique identifier allows for streamlined participation in research studies, clinical trials, and collaborations within the NR2F1 community around the world.
6. Join the NR2F1 Parent Facebook Group
Connect with NR2F1 parents by joining our dedicated parent Facebook group. This private and supportive community provides a safe space to share experiences, seek advice, and find comfort in the collective knowledge and understanding of other parents. Join here.
7. Participate in Biorepository Roadshow
We are excited to partner with COMBINEDBrain and have the chance to collect BBSOAS bio samples (e.g. blood), to be used by researchers in future projects. COMBINEDBrain is collecting samples at partner conferences across the country, throughout 2023.
8. How can you get more involved with NR2F1 Foundation?
We always need volunteers to support the work we do.As a Foundation, in order to operate and initiate research we rely on donations. Our mission as a foundation is to empower families and individuals living with rare NR2F1 gene variants through education, advocacy, and research.Remember, you are not alone in this journey, and together we can create a better future for our loved ones affected by NR2F1.
Carlie Monnier and Jennifer Coughlin
President and Vice President of the NR2F1 Foundation
Moms to Sidelle and Edith (respectively)