We've got some thrilling news! The NR2F1 Foundation will hold a meeting at the University of Denver in Colorado next month. It is planned to last for an entire day on Saturday, October 7, and will include local BBSOAS families as well as board members of the NR2F1 Foundation and the foundation's scientific advisers.
The objective of the meeting is to create a research plan and a road map for the future. In order to interact and generate ideas for a research roadmap, this is the first strategic research meeting thefoundation has held that brings all NR2F1 / BBSOAS researchers into one space.
Our research objectives for 2023 are as follows, as stated in our State of Research document, which is accessible on our website:
- Through joint initiatives like the NR2F1 patient registry, empower and include families in research.
- Develop new, effective partnerships while preserving connections with current research partners who have an interest in NR2F1.
- To develop a research strategy, involving the scientific advisory board and other researchers.
For the benefit of all the families in our BBSOAS community, we are eager to develop a strategy to achieve those objectives. Our motivation and ability to advocate for greater funds, research, treatments, and medical advancements comes from the support of the community. Here is a summary of the forthcoming meeting because we want you to feel included in what we are planning.
Some attendees will be able to attend in person, others will be participating virtually. As of the date of this post, here is a list of those who plan to attend.
NR2F1 Board Attending In-Person:
Carlie Monnier (President, Michigan)
Melissa Thelen (Research Chair, Pennsylvania)
Jennifer Coughlin (VP, London, UK)
Katia Roda (Patient Registry Chair, Florida)
Brigette Hinger (Board Member and Conference Chair, Colorado)
NR2F1 Board Attending Virtually:
Tim Coughlin (Research and Fundraising Chair, London, UK)
Scientific Advisors Attending In-Person:
Dr. Veeral Shah (Ohio)
Dr. Christian Schaaf (Germany)
Dr. Henning Fröhlich, postdoctoral researcher under Dr. Schaaf (Germany)
Dr. Anna Pfalzer, from COMBINEDBrain standing in for Dr. Sarah Poliquin, NR2F1 Scientific Officer (Tennessee)
Scientific Advisors Attending Virtually:
Johann Maaß, medical student under Dr. Schaaf (Germany)
Dr. Michele Studer (France)
Dr. Michele Bertacchi (France)
Schedule for the Meeting
The day's schedule and a potential list of some of the subjects to be covered are shown below.
7-8:30am: Breakfast with the NR2F1 Foundation Board Members, Scientific Advisors and local BBSOAS families at the University of Denver.
8:30am start
Welcome and round table introductions – Carlie Monnier, NR2F1 President
Developing a research strategy and roadmap 
Topics will include:
- 20 mins presentations and updates from each Scientific advisor
- Where are the current gaps in our understanding of the function of NR2F1?
- Discussion of existing activities, key focus and how to prioritize in roadmap to include Natural history studies, biomarkers, etc.
- Facilitated discussion to validate and agree key priorities and draft roadmap based on above activity
- Review the collected Natural History data to date, identify any opportunities for development or focus, and set a protocol to be used in the BBSOAS Center of Excellence clinic
- How/where do we need to expand relationships to engage with a broader scientific population?
Recommendations
- Scientific advisors to provide top 3 recommendations to the Foundation in regards to research, research spend, communication, or topics discussed throughout the day
4:30-5pm - Summary, thanks and wrap up - Carlie Monnier, President
Dinner for in person attendees and local Board members
Thoughts of upcoming meeting from board members
Thoughts from some of our board members about the upcoming meeting.
Brigette Hinger, Board Member attending both the breakfast with her BBSOAS daughter and the meeting to follow –
"I am looking forward to the morning breakfast meet and greet! Being able to personally meet the researchers involved with the NR2F1 Foundation as well as meeting some other parents along with their BBSOAS children will be an incredible opportunity.”
Jen Coughlin, VP –
"Having created our Strategic Plan earlier this year, this research meeting will deliver the vital and complimentary research roadmap to enable us to have a very clear, and executable plan to deliver to our community. We have so much happening, we are excited to deliver on our mission Empower families and individuals living with rare NR2F1 gene variants through education, advocacy, and research”
Carlie Monnier, President –
"When my daughter Sidelle was diagnosed with BBSOAS in 2014, I never dreamed that I would someday be sitting at the same table with renowned BBSOAS and NR2F1 researchers from around the world discussing the incredible amount of work that is happening in labs and clinics on behalf of people like Sidelle. Not only are we reflecting on the strides that have been made in research, but most importantly, what the plan is for the future. Amazing!”
The plans, activities, decisions, goals, and priorities that are decided will all be detailed in a follow-up post, along with the top suggestions the scientific advisers have given us. We can't contain our excitement as we go forward with both new and expanded research.
