Two years ago, the very first NR2F1 Family and Scientific Conference was held in Orlando, Florida. Last month, the second Conference took place in Orlando on April 3 – 5. It was a resounding success with 132 in attendance, representing 11 countries and 23 US states.
Statement of Purpose
The purpose of the conference has remained the same –
To provide a hybrid platform: for NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) researchers and doctors to meet and share research findings to foster the growth of an international scientific community for a collaborative path to further BBSOAS research. AND for BBSOAS families to connect with each other to foster empowerment and enhance their knowledge of BBSOAS/NR2F1 science and research in order to further patient-led research.
Rare Disease Research Update
NR2F1 Scientific advisor Sarah Poliquin gave a talk both days and shared information about the NR2F1 repository and rare disease research. She also talked about the BBSOAS research roadmap and how building the repository is a strategic priority for the Foundation as part of the research roadmap.
One highlight from the conference was the opportunity for attendees to donate samples of their blood and urine to add to the NR2F1 biorepository. The COMBINEDBrain Biorepository team was available onsite to collect the samples and interview those who donated. In the last 12 months, 38 patients and 6 siblings have donated. During the 3-day conference, 18 patients and 3 siblings donated blood.
Dr. Christian Schaaf shared BBSOAS research findings to date, Dr. Michele Studer talked about the implications for BBSOAS and NR2F1 gene research. Ideas were presented on how to get involved with fundraising for research.
One of the highlights of the conference for many families was meeting other families who have similar concerns and challenges. Parents and children alike make new friends and forge new alliances. Embassy Suites by Hilton Orlando Lake Buena Vista Resort, where the conference was held both years, is a child-friendly resort and a very large children’s play area. Built into the conference schedule were times for play, fun, and games for BBSOAs families. The foundation hosted a fun-filled afternoon on the last day with caricature drawing, face painting, art, music, and refreshments.
Brigette Hinger, BBSOAS Mom, Conference Committee Chair, Colorado, “I was so excited to be able to connect in person with people I’ve only ever known over zoom for the past few years. Seeing our #BBSOAStrong in person, interacting and just enjoying life together, strengthened our bonds and makes me so excited for our future conferences! ”
The last event of the day was the introduction of the new NR2F1 Foundation President, Jen Coughlin, by Carlie Monnier, the outgoing Foundation President.
Carlie Monnier,BBSOAS Mom, Vice-President, Co-Founder,Michigan “This conference was a time of reflection for me as I thought about our humble beginnings as a foundation; how far we’ve come, how much we have accomplished for our community and our plans for the future. It was an incredible opportunity to connect with families and share with them all the work that is being done behind the scenes on their behalf. Passing the baton to Jen Coughlin, our new president to steer the foundation ship, never felt better!”
Video recordings of the conference will be available on the NR2F1 Foundation YouTube Channel.
Our Sponsors
Coughlin Midlige & Garland LLP, a law firm with offices in New York City, and Morristown and Bridgewater Township, NJ.
We are so grateful to all our sponsors who helped make the conference a reality. Our Gold sponsor was Coughlin Midlige & Garland LLP, a law firm with offices in New York City, and Morristown and Bridgewater Township, NJ.
Ashlee Manjón-Stierstorfer, BBSOAS Mom, Conference Committee & Social Media Chair, Arizona “As the conference committee member, I am honestly so proud of what Brigette and I were able to accomplish! We were able to meet people from all over the world, help our community see what their money truly is going to with our ongoing research that was discussed by our presenters, and at the end of the day we showed just how strong our community is. I can’t wait to put the next conference together to be bigger and see what else we can offer to our families to support their #BBSOAStrong!”
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.
