We have some exciting news! The NR2F1 Foundation will be hosting a research development meeting next month at the University of Denver in Colorado. Scheduled to run all day Saturday, October 7, participants will include NR2F1 Foundation Board Members, Scientific Advisors, and local BBSOAS families who live in the area.
Meeting Purpose
The purpose of the meeting is to develop a research strategy and build a roadmap for moving forward. This is the first strategic research meeting that the foundation has had that is joining all NR2F1 / BBSOAS researchers together in one room to collaborate and brainstorm a research roadmap.
As noted in our State of Research document that you can read on our website, our research goals for 2023 are to:
- Empower and engage families in research through collaborative projects including the NR2F1 patient registry.
- Strengthen relationships with existing partners invested in research for NR2F1 while building new, powerful collaborations.
- Engage the scientific advisory board and external researchers to build a research strategy.
We are looking forward to fleshing out a plan to meet those goals for the benefit of all families in our BBSOAS community. It is the community support that drives us and enables us to fight for more funding, research, therapies, and medical breakthroughs. We want you to feel a part of what we are planning, so here is an overview of the upcoming meeting.
Meeting Participants
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
Following is the schedule for the day and a potential list of some of the topics to be discussed.
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 from the Experts
- 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
Some of our board members have this to say about the upcoming meeting.
Brigette Hinger, Board Member attending both the breakfast with her BBSOAS daughter and the subsequent meeting – “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!”
There will be a follow up post with information of all the plans, activities, decisions, goals, and priorities that are decided, as well as the top recommendations we receive from the scientific advisors. We are so excited to be pushing forward with new research and expanding research that is already in place.
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.
